ENSMUSG00000025932


Mus musculus

Features
Gene ID: ENSMUSG00000025932
  
Biological name :Eya1
  
Synonyms : Eya1 / Eyes absent homolog 1 / P97767
  
Possible biological names infered from orthology : EYA transcriptional coactivator and phosphatase 1 / Q99502
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: A3
Gene start: 14168954
Gene end: 14310235
  
Corresponding Affymetrix probe sets: 10353192 (MoGene1.0st)   1421727_at (Mouse Genome 430 2.0 Array)   1443117_at (Mouse Genome 430 2.0 Array)   1457424_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000140171
Ensembl peptide - ENSMUSP00000139542
Ensembl peptide - ENSMUSP00000140619
Ensembl peptide - ENSMUSP00000141112
Ensembl peptide - ENSMUSP00000141072
Ensembl peptide - ENSMUSP00000027066
Ensembl peptide - ENSMUSP00000079493
Ensembl peptide - ENSMUSP00000126383
NCBI entrez gene - 14048     See in Manteia.
MGI - MGI:109344
RefSeq - XM_017315422
RefSeq - NM_010164
RefSeq - XM_006495446
RefSeq - XM_006495451
RefSeq - XM_006495452
RefSeq - XM_011238344
RefSeq - XM_011238346
RefSeq - XM_011238347
RefSeq - XM_017315348
RefSeq - XM_017315381
RefSeq - XM_017315414
RefSeq - NM_001252192
RefSeq - NM_001310459
RefSeq Peptide - NP_001239121
RefSeq Peptide - NP_001297388
RefSeq Peptide - NP_034294
swissprot - A0A087WQF4
swissprot - P97767
swissprot - A0A087WSJ4
swissprot - A0A087WNY3
swissprot - Q8C9D0
swissprot - A0A087WRG6
swissprot - F6YST4
Ensembl - ENSMUSG00000025932
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eya1ENSDARG00000014259Danio rerio
 EYA1ENSGALG00000043033Gallus gallus
 EYA1ENSG00000104313Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Eya4 / Q9Z191 / Mus musculus EYA transcriptional coactivator and phosphatase 4 (Eya4), transcript variant 2, mRNA. / O95677* / EYA transcriptional coactivator and phosphatase 4*ENSMUSG0000001046173
Eya2 / O08575 / Eyes absent homolog 2 / O00167* / EYA transcriptional coactivator and phosphatase 2*ENSMUSG0000001789758
Eya3 / P97480 / Eyes absent homolog 3 / Q99504* / EYA transcriptional coactivator and phosphatase 3*ENSMUSG0000002888639


Protein motifs (from Interpro)
Interpro ID Name
 IPR006545  EYA domain
 IPR028471  Eyes absent homologue 1
 IPR028472  Eyes absent family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001656 metanephros development IMP
 biological_processGO:0001657 ureteric bud development IGI
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IGI
 biological_processGO:0003151 outflow tract morphogenesis IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IEA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006470 protein dephosphorylation IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007501 mesodermal cell fate specification IDA
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0010212 response to ionizing radiation IEA
 biological_processGO:0014706 striated muscle tissue development IGI
 biological_processGO:0016576 histone dephosphorylation IEA
 biological_processGO:0016925 protein sumoylation IDA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0035909 aorta morphogenesis IMP
 biological_processGO:0042471 ear morphogenesis IEA
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0042473 outer ear morphogenesis IMP
 biological_processGO:0042474 middle ear morphogenesis IMP
 biological_processGO:0045165 cell fate commitment IMP
 biological_processGO:0045664 regulation of neuron differentiation IMP
 biological_processGO:0045739 positive regulation of DNA repair IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0048665 neuron fate specification IGI
 biological_processGO:0048704 embryonic skeletal system morphogenesis IMP
 biological_processGO:0048752 semicircular canal morphogenesis IMP
 biological_processGO:0048856 anatomical structure development IGI
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IMP
 biological_processGO:0060037 pharyngeal system development IMP
 biological_processGO:0071599 otic vesicle development IGI
 biological_processGO:0071600 otic vesicle morphogenesis IMP
 biological_processGO:0072513 positive regulation of secondary heart field cardioblast proliferation IGI
 biological_processGO:0090103 cochlea morphogenesis IMP
 biological_processGO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0032993 protein-DNA complex IDA
 molecular_functionGO:0003723 RNA binding IDA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
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Allelic Composition: Nodaltm1.1Hmd/Nodaltm1.1Hmd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0000037 abnormal lateral semicircular canal "anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000041 absent endolymphatic duct "missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0000044 absent organ of Corti "absence of the highly specialized epithelium in the floor of the ductus cochlearis " [J:54408]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0000090 absent premaxilla "missing anterior and interior portion of the maxilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000106 abnormal basisphenoid bone morphology "malformed base of the sphenoid bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000154 rib fusion "appearance of one or more ribs as a single structure" [J:62022, J:62023]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000484 abnormal pulmonary artery morphology "structrual anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, hdene:Howard Dene, Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Rsd/Six1tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ

 MP:0000680 absent parathyroid glands "missing the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000705 athymia "absence of the primary lymphoid organ" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001071 abnormal facial nerve morphology "malformed or misprojection of motor axons from the pons to the face" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29973]
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Allelic Composition: Col19a1tm2Rmz/Col19a1tm2Rmz
Genetic Background: involves: 129T2/SvEmsJ

 MP:0001072 abnormal vestibulocochlear nerve morphology "malformed sensory nerve innervating the receptor cells of the membranous labyrinth" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]
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Allelic Composition: Col19a1tm2Rmz/Col19a1tm2Rmz
Genetic Background: involves: 129T2/SvEmsJ

 MP:0001082 abnormal geniculate ganglion morphology "malformed group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0001086 absent petrosal ganglion " missing the group of sensory neuron cell bodies comprising the petrosal ganglion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1bor/Eya1bor,Nxf1Mvb1/Nxf1Mvb1
Genetic Background: involves: C3HeB/FeJ * C57BL/6J * CAST/Ei

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1bor/Eya1bor,Nxf1Mvb1/Nxf1Mvb1
Genetic Background: involves: C3HeB/FeJ * C57BL/6J * CAST/Ei

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: ApcMin/Apc+
Genetic Background: involves: C57BL/6 * C57BL/6J

 MP:0002260 abnormal thyroid cartilage morphology "any structural anomaly of the largest of the laryngeal cartilages " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0002622 abnormal cochlear hair cell morphology "malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cdkn2atm1Cjs/Cdkn2atm1Cjs,Tacstd2tm1Lsm/Tacstd2tm1Lsm
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

 MP:0002659 pituitary gland hypoplasia "decreased size of pituitary gland due to decreased cell number" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Rsd/Six1tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002855 abnormal cochlear ganglion morphology "malformation, malfunction or absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Eya1bor/Eya1bor,Nxf1Mvb1/Nxf1Mvb1
Genetic Background: involves: C3HeB/FeJ * C57BL/6J * CAST/Ei

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

 MP:0002858 abnormal posterior semicircular canal "anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

 MP:0003056 abnormal hyoid bone "anomalous structure of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003110 absent malleal processus brevis 
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003142 anotia "congenital absence of one or both auricles of the ears" [J:57313, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003147 absent cochlea "absence or agenesis of the cochlea" [J:23837, J:36834, J:46972, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003148 reduced cochlear coiling "a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns" [J:56294, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003161 absent lateral semicircular canal 
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Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003162 reduced size of lateral semicircular canal 
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003163 absent posterior semicircular canal 
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Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003164 reduced size of posterior semicircular canal 
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003166 reduced size of superior semicircular canal 
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0003446 renal hypoplasia "decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Rsd/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003499 thyroid hypoplasia 
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003604 single kidney 
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Rsd/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
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Allelic Composition: Chgatm1Skmt/Chga+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Notch1tm2Rko/Notch1tm2Rko,Tg(SFTPC-rtTA)5Jaw/?,Tg(tetO-cre)1Jaw/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003722 absent ureter "missing the tube that conducts the urine from the renal pelvis to the bladder" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003740 fusion of middle ear ossicles "union of the three small bones of the middle ear into a single structure " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0004157 interrupted aortic arch "complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004160 retroesophageal right subclavian artery "the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004204 absent stapes "absence of the smallest and innermost of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004248 abnormal epaxial muscle morphology "any structural anomaly of the muscles derived from the medial myotome; includes the intrinsic back muscles" [PMID:1591996]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Rsd/Six1tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004299 absent vestibular ganglion "absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004310 small otic vesicle "reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004314 absent vestibule "absence of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004315 absent saccule "absence of the smaller of the two sacs in the vestibule " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0004317 small saccule "reduced size of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004328 decreased vestibular hair cell number "decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0004395 increased cochlear inner hair cell number "increased number (or more than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0004396 decreased cochlear inner hair cell number "decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdkn2atm1Cjs/Cdkn2atm1Cjs,Tacstd2tm1Lsm/Tacstd2tm1Lsm
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004401 increased cochlear outer hair cell number "increased number (or more than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

 MP:0004402 decreased cochlear outer hair cell number "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdkn2atm1Cjs/Cdkn2atm1Cjs,Tacstd2tm1Lsm/Tacstd2tm1Lsm
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004427 abnormal vestibular labyrinth "any structural abnormality in the portion of the membranous labyrinth concerned with the sense of equilibration (vs. the cochlear labyrinth, which is concerned with the sense of hearing) and innervated by the vestibular nerve; it is located within the semicircular canals and vestibule of the bony labyrinth, and consists of the utricle, saccule, and the semicircular, utriculosaccular, and endolymphatic ducts " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

 MP:0004452 abnormal pterygoid process morphology "any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004506 abnormal pubic bone morphology "any structural anomaly in the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004507 abnormal ischium morphology "any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0004529 decreased outer hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0004539 absent maxilla "missing the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004620 cervical vertebral fusion "the union of one or more cervical vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0004739 conductive hearing loss "progressive hearing loss due to lesions in the external auditory canal or middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

 MP:0004922 abnormal common crus morphology "any structural abnormality in the united, nonampullary ends of the superior and posterior semicircular ducts of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0004936 abnormal ureteric bud branching morphogenesis "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005076 abnormal cell differentiation "anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism s life history" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Chgatm1Skmt/Chga+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005105 abnormal middle ear ossicle morphology "anomalous structure or development of the three small bones of the middle ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

 MP:0005106 abnormal incus morphology "structural anomaly of the middle of the three auditory ossicles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0005107 abnormal stapes morphology "structural anomaly of the smallest and innermost of the three auditory ossicles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

 MP:0005247 abnormal extraocular muscle morphology "structural anomaly of any of the striated muscles that move the eye and include: superior rectus, inferrior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005270 abnormal zygomatic bone morphology "anomalous structure of the bone that forms the prominence of the cheek" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0005272 abnormal temporal bone morphology "anomalous structure of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0005352 small skull "less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0005361 small pituitary gland "reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Rsd/Six1tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0005579 absent outer ear "missing auricles or external acoustic meatus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:17694]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0006011 abnormal endolymphatic duct morphology "any structural alteration in the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0006018 abnormal tympanic membrane morphology "any structural alterations in the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane consitutes the boundary between the external and middle ear." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:46639:]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0006020 reduced size of tympanic ring "smaller than average tympanic ring" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0006030 abnormal otic vesicle formation "anomalous formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313:]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0006032 abnormal ureteric bud morphology "anomaly in the formation or development of the ureteric bud that with the metanephric mesenchyme gives rise to the kidneys " [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313:]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006033 abnormal external auditory canal "malformation of the canal that connects the outer and middle ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006089 abnormal saccule morphology "malformation in the smaller of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0006090 abnormal utricle morphology "malformation in the larger of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006284 absent hypaxial muscle "absence of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue" [J:86619, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Rsd/Six1tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006285 absent inner ear "absence of all components of the labyrinth, including the semicircular canals, vestibule and cochlea" [J:86619, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0006382 abnormal lung epithelium morphology "any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Chgatm1Skmt/Chga+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Notch1tm2Rko/Notch1tm2Rko,Tg(SFTPC-rtTA)5Jaw/?,Tg(tetO-cre)1Jaw/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008063 increased otic epithelium apoptosis "increase in the number of otic epithelial cells undergoing programmed cell death" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0008064 decreased otic epithelium proliferation "reduction in the expansion rate of the otic epithelial cell population by cell division" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0008065 short endolymphatic duct "length reduction or truncation of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0008148 abnormal rib-sternum attachment "any anomaly in the in the normal joining of the ribs to the sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0008488 abnormal semicircular canal ampulla morphology "any structural anomaly of the spherical enlargement at the base of each semicircular canal where they connect with the utricle, containing the crista ampullaris which detects movement of the fluid within the canals" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1tm1Rilm/Eya1+,Pax2tm1Pgr/Pax2+,Six1tm1Mair/Six1+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1tm1Rilm
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

 MP:0009653 abnormal palate development "abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0009707 absent external auditory canal "absence of the canal that connects the outer and middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0009760 abnormal mitotic spindle "an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis" [ISBN:8185198691 "Rieger R et al Eds Glossary of Genetics Classical and Molecular"]
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Allelic Composition: Chgatm1Skmt/Chga+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

Allelic Composition: Eya1tm1Rilm/Eya1+,Sumo1Gt(RRQ016)Byg/Sumo1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009895 decreased palatine shelf size "reduced size of the bony projection of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0009897 decreased maxillary shelf size "reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0009914 abnormal hyoid bone lesser horn morphology "any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0010466 vascular ring "the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com]
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Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010978 absent ureteric bud "absence of the epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme" [PMID:19828308]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

 MP:0011386 increased metanephric mesenchyme apoptosis "increase in the number of cells of the metanephric mesenchyme (MM) undergoing programmed cell death; usually due to failure of MM cells to interact with the ureteric bud (UB) tips after UB invasion" [MGI:anna]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Erbb3tm2Cbm/Erbb3tm2Cbm
Genetic Background: either: 129P2/OlaHsd or (involves: 129P2/OlaHsd * C57BL/6)

Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

Allelic Composition: Eya1bor/Eya1bor,Nxf1Mvb1/Nxf1Mvb1
Genetic Background: involves: C3HeB/FeJ * C57BL/6J * CAST/Ei

Allelic Composition: Eya1bor/Eya1bor
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Eya1bor/Eya1bor,Nxf1Mvb1/Nxf1+
Genetic Background: involves: C3HeB/FeJ * C57BL/6J * CAST/Ei

 MP:0012729 abnormal common carotid artery morphology "any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery" [MGI:anna]
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Allelic Composition: Eya1tm1Rilm/Eya1+,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0013163 absent thyroid gland isthmus "absence of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland" [MGI:anna]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0013222 abnormal first pharyngeal pouch morphology "any structural anomaly of the first endodermal branchial pouch located between the first and second branchial arches; in mammals, the first pouch elongates to form a diverticulum known as the tubotympanic recess; the distal portion of this recess expands to reach the first branchial groove and form the middle ear cavity (aka tympanic cavity) and mastoid antrum; its proximal part remains tubular and forms the auditory tube (aka Eustachian or pharyngotympanic tube), which forms a communication between the nasopharynx and tympanic cavity" [http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-50-the-pharyngeal-clefts-and-pouches, https://www.inkling.com/read/before-we-are-born-moore-persaud-torchia-8th/chapter-10/pharyngeal-pouches]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0013290 persistent ultimobranchial bodies "partial or complete failure of the ultimobranchial bodies to fuse with the ventral thyroid primordium; as a result, ultimobranchial bodies remain as unilateral or bilateral vesicles composed exclusively of calcitonin-producing cells" [ISBN:032322153X]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0030097 preauricular pit "small indentation anterior to the insertion of the ear" [HP:0004467, PMID:19152421]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0030155 absent tympanic cavity "absence of the small, air-filled, mucosa-lined cavity that is located in the petrous portion of the temporal bone and houses the auditory ossicles and intratympanic muscles (tensor tympani and stapedius) as well as the chorda tympani and the tympanic plexus of nerves" [MGI:anna]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0030161 absent auditory bulla "absence of the hollow bony structure normally found on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone" [MGI:anna]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0030204 large nasal septum "increased size of the dividing wall that runs down the midline of the nose, separating the nasal cavity into the two nostrils" [MGI:anna]
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Allelic Composition: Airntm1Dpb/Airn+
Genetic Background: involves: FVB/N

 MP:0030421 tongue muscle hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the muscular portion of the tongue" [MGI:anna]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0030426 facial muscle hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression" [MGI:anna]
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Allelic Composition: Eya1tm1Rilm/Eya1tm1Rilm,Six1tm1Mair/Six1tm1Mair
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / reaction






 

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