ENSMUSG00000039137


Mus musculus

Features
Gene ID: ENSMUSG00000039137
  
Biological name :Whrn
  
Synonyms : Q80VW5 / whirlin / Whrn
  
Possible biological names infered from orthology : Q9P202
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: C1
Gene start: 63414910
Gene end: 63495991
  
Corresponding Affymetrix probe sets: 10513692 (MoGene1.0st)   1432555_at (Mouse Genome 430 2.0 Array)   1436485_s_at (Mouse Genome 430 2.0 Array)   1436486_x_at (Mouse Genome 430 2.0 Array)   1442507_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121944
Ensembl peptide - ENSMUSP00000065838
Ensembl peptide - ENSMUSP00000069664
Ensembl peptide - ENSMUSP00000081557
Ensembl peptide - ENSMUSP00000092647
Ensembl peptide - ENSMUSP00000092648
Ensembl peptide - ENSMUSP00000099931
Ensembl peptide - ENSMUSP00000103016
Ensembl peptide - ENSMUSP00000114030
Ensembl peptide - ENSMUSP00000116387
Ensembl peptide - ENSMUSP00000119280
NCBI entrez gene - 73750     See in Manteia.
MGI - MGI:2682003
RefSeq - XM_017320410
RefSeq - NM_001008791
RefSeq - NM_001008792
RefSeq - NM_001008793
RefSeq - NM_001276371
RefSeq - NM_028640
RefSeq - XM_006538309
RefSeq Peptide - NP_001008793
RefSeq Peptide - NP_001263300
RefSeq Peptide - NP_082916
RefSeq Peptide - NP_001008791
RefSeq Peptide - NP_001008792
swissprot - Q80VW5
swissprot - I7HNW6
swissprot - F7BB17
swissprot - F6RBK9
Ensembl - ENSMUSG00000039137
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 whrnbENSDARG00000068166Danio rerio
 WHRNENSGALG00000038223Gallus gallus
 WHRNENSG00000095397Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pdzd7 / PDZ domain containing 7 / Q9H5P4*ENSMUSG0000007481822
Ush1c / USH1 protein network component harmonin / Q9Y6N9*ENSMUSG0000003083819
Pdzd11 / Q9CZG9 / PDZ domain-containing protein 11 / Q5EBL8* / PDZ domain containing 11*ENSMUSG000000156684


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR033028  Whirlin
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis ISO
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0021694 cerebellar Purkinje cell layer formation IMP
 biological_processGO:0045184 establishment of protein localization IMP
 biological_processGO:0050953 sensory perception of light stimulus IEA
 biological_processGO:0060088 auditory receptor cell stereocilium organization IMP
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:1990227 paranodal junction maintenance IMP
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0002141 stereocilia ankle link IDA
 cellular_componentGO:0002142 stereocilia ankle link complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005929 cilium IDA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0032426 stereocilium tip IDA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:1990075 periciliary membrane compartment IDA
 cellular_componentGO:1990696 USH2 complex IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000642 enlarged adrenal glands "increased size of the endocrine gland" [J:40203]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Glultm3Whla/Glultm3Whla,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Glultm3Whla/Glultm3Whla,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 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: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnhb/Whrnhb
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0001745 increased circulating corticosterone level "greater than the normal concentration of this adrenocortical steroid; induces glycogen deposition and regulates sodium conservation and potassium secretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:54931]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0001973 increased thermal nociceptive threshold "a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]
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Allelic Composition: Kmt5btm1a(KOMP)Wtsi/Kmt5btm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Kmt5btm1a(KOMP)Wtsi/Wtsi

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Glultm3Whla/Glultm3Whla,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Glultm3Whla/Glultm3Whla,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [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: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004393 abnormal cochlear inner hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell s surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrn+
Genetic Background: involves: C57BL/6J * STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of 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: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss 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: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004408 decreased cochlear hair cell number "decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Glultm3Whla/Glultm3Whla,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004413 absent cochlear microphonics "absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0004416 absent cochlear nerve compound action potential "absence of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0004434 abnormal cochlear outer hair cell physiology "anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1a(EUCOMM)Wtsi/Whrntm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Whrntm1a(EUCOMM)Wtsi

 MP:0004515 abnormal vestibular hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1a(EUCOMM)Wtsi/Whrntm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Whrntm1a(EUCOMM)Wtsi

 MP:0004520 short vestibular hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004524 short cochlear hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 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: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004531 short outer hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004536 short inner hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Whrnwi/Whrn+
Genetic Background: involves: C57BL/6J * STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0004580 abnormal cochlear hair bundle transient lateral links "any structural abnormality in the fine lateral links that interconnect stereocilia at prenatal stages; transient lateral links diminish at early postnatal stages when ankle links appear at the base of stereocilia, and are essentially unaffected by treatment with subtilisin and EGTA" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0004905 decreased uterus weight "reduction in the weight of the female organ of gestation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004910 decreased seminal gland weight "reduction in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0004956 decreased thymus weight "reduction in the average weight of the primary lymphoid organ that is required for maturation of T cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Polbtm1.1Jbsw/Polb+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005289 increased oxygen consumption "greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005439 decreased glycogen level "less than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Whrnhb/Whrnhb
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0006383 abnormal cochlear frequency tuning "any anomalies in the frequency resolution of the cochlea, normally determined by the passive mechanical properties of the basilar membrane and active feedback from the outer hair cells which detect and amplify sound-induced basilar membrane motions " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

 MP:0006388 abnormal auditory summating potiential "any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1526886]
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Allelic Composition: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450L/Rpe65450L,Whrnwi/Whrnwi
Genetic Background: 129.Cg(B6)-Whrnwi

 MP:0008455 abnormal retinal rod cell inner segment morphology "any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450L/Rpe65450L,Whrnwi/Whrnwi
Genetic Background: 129.Cg(B6)-Whrnwi

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Whrntm1Tili/Whrntm1Tili
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Crhr2tm1Mpsp/Crhr2tm1Mpsp
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 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: Whrnwi/Whrnwi
Genetic Background: involves: STOCK a Tyrp1b Myo5ad Oca2p Ednrbs

Allelic Composition: Whrntm1a(EUCOMM)Wtsi/Whrntm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Whrntm1a(EUCOMM)Wtsi

Allelic Composition: Whrntm1b(EUCOMM)Wtsi/Whrntm1b(EUCOMM)Wtsi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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