ENSMUSG00000013584


Mus musculus

Features
Gene ID: ENSMUSG00000013584
  
Biological name :Aldh1a2
  
Synonyms : Aldh1a2 / Q62148 / Retinal dehydrogenase 2
  
Possible biological names infered from orthology : aldehyde dehydrogenase 1 family member A2 / O94788
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: D
Gene start: 71215789
Gene end: 71296243
  
Corresponding Affymetrix probe sets: 10586865 (MoGene1.0st)   1422789_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034723
NCBI entrez gene - 19378     See in Manteia.
MGI - MGI:107928
RefSeq - NM_009022
RefSeq Peptide - NP_033048
swissprot - Q62148
Ensembl - ENSMUSG00000013584
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aldh1a2ENSDARG00000053493Danio rerio
 O93344ENSGALG00000004270Gallus gallus
 O94788ENSG00000128918Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P24549 / Aldh1a1 / Retinal dehydrogenase 1 / P00352* / aldehyde dehydrogenase 1 family member A1*ENSMUSG0000005327969
Q9JHW9 / Aldh1a3 / Aldehyde dehydrogenase family 1 member A3 / P47895* / aldehyde dehydrogenase 1 family member A3*ENSMUSG0000001513468
O35945 / Aldh1a7 / Aldehyde dehydrogenase, cytosolic 1 / P00352* / ALDH1A1* / aldehyde dehydrogenase 1 family member A1*ENSMUSG0000002474768
Aldh2 / P47738 / Aldehyde dehydrogenase, mitochondrial / P05091* / AC002996.1* / aldehyde dehydrogenase 2 family (mitochondrial)*ENSMUSG0000002945565
Q9CZS1 / Aldh1b1 / Aldehyde dehydrogenase X, mitochondrial / P30837* / aldehyde dehydrogenase 1 family member B1*ENSMUSG0000003556164
Q8K009 / Aldh1l2 / Mitochondrial 10-formyltetrahydrofolate dehydrogenase / Q3SY69* / aldehyde dehydrogenase 1 family member L2*ENSMUSG0000002025648
Q8R0Y6 / Aldh1l1 / Mus musculus aldehyde dehydrogenase 1 family, member L1 (Aldh1l1), transcript variant 2, mRNA. / O75891* / aldehyde dehydrogenase 1 family member L1*ENSMUSG0000003008848
Aldh9a1 / aldehyde dehydrogenase 9 family member A1 / P49189*ENSMUSG0000002668736
Q8BH00 / Aldh8a1 / Aldehyde dehydrogenase family 8 member A1 / Q9H2A2* / aldehyde dehydrogenase 8 family member A1*ENSMUSG0000003754235
Q9DBF1 / Aldh7a1 / Alpha-aminoadipic semialdehyde dehydrogenase / P49419* / aldehyde dehydrogenase 7 family member A1*ENSMUSG0000005364427


Protein motifs (from Interpro)
Interpro ID Name
 IPR015590  Aldehyde dehydrogenase domain
 IPR016160  Aldehyde dehydrogenase, cysteine active site
 IPR016161  Aldehyde/histidinol dehydrogenase
 IPR016162  Aldehyde dehydrogenase, N-terminal
 IPR029510  Aldehyde dehydrogenase, glutamic acid active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001936 regulation of endothelial cell proliferation IMP
 biological_processGO:0001947 heart looping TAS
 biological_processGO:0002138 retinoic acid biosynthetic process IEA
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0007494 midgut development IEA
 biological_processGO:0007507 heart development TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0009855 determination of bilateral symmetry IMP
 biological_processGO:0009952 anterior/posterior pattern specification IMP
 biological_processGO:0009954 proximal/distal pattern formation IMP
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0014032 neural crest cell development IMP
 biological_processGO:0016331 morphogenesis of embryonic epithelium IMP
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0021983 pituitary gland development IEA
 biological_processGO:0030182 neuron differentiation IMP
 biological_processGO:0030324 lung development IMP
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0030902 hindbrain development IMP
 biological_processGO:0031016 pancreas development IMP
 biological_processGO:0031076 embryonic camera-type eye development IGI
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0034097 response to cytokine IEA
 biological_processGO:0035115 embryonic forelimb morphogenesis IMP
 biological_processGO:0035799 ureter maturation IMP
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042573 retinoic acid metabolic process IEA
 biological_processGO:0042574 retinal metabolic process IDA
 biological_processGO:0042904 9-cis-retinoic acid biosynthetic process IDA
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0048384 retinoic acid receptor signaling pathway IMP
 biological_processGO:0048566 embryonic digestive tract development IMP
 biological_processGO:0048738 cardiac muscle tissue development IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060324 face development IMP
 biological_processGO:0071300 cellular response to retinoic acid IEP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0001758 retinal dehydrogenase activity IDA
 molecular_functionGO:0004028 3-chloroallyl aldehyde dehydrogenase activity IDA
 molecular_functionGO:0004029 aldehyde dehydrogenase (NAD) activity IBA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0016918 retinal binding IEA


Pathways (from Reactome)
Pathway description
RA biosynthesis pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Fasltm1.1Bksa/Fasltm1.1Bksa
Genetic Background: involves: 129

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0000293 absent myocardial trabeculae "absence of the supporting bundles of muscular fibers lining the walls of the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0000298 absent endocardial cushion "absence of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [MGI:CLS]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Tg(Dll1-cre)1Gos/0
Genetic Background: Not Specified

Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ

 MP:0000940 abnormal motor neuron innervation "misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Tg(Dll1-cre)1Gos/0
Genetic Background: Not Specified

Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ

 MP:0001056 abnormal cranial nerve morphology "any anomaly, deformity, or malformation of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0001092 abnormal trigeminal ganglion morphology "malformed group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33038]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0001096 abnormal glossopharyngeal ganglion morphology "malformed group of neuron cell bodies associated with the ninth cranial nerve" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0001100 abnormal vagus ganglion morphology "malformed group of sensory neuron cell bodies associated with the vagus nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Zic3tm1Bca/Zic3tm1Bca
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Rdh10tm1d(KOMP)Wtsi/Rdh10tm1d(KOMP)Wtsi
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * C57BL/6N

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 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: Brca1tm4Cxd/Brca1tm4Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0002191 abnormal artery morphology "malformation of the blood vessels that carry blood away from the heart" [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: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0002256 abnormal laryngeal cartilage morphology "any structural anomaly of the cartilagenous structures that support the larynx" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0002258 abnormal cricoid cartilage morphology "any structural anomaly of the most inferior 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002950 abnormal neural crest cell migration "defect in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0003120 abnormal tracheal cartilage "any structural anomaly of the cartilaginous structures that support the trachea" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:97123]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 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: Gt(ROSA)26Sortm1(RARA*)Clmd/Gt(ROSA)26Sortm1(RARA*)Clmd,Tg(Hoxb7-cre)13Amc/0,Tg(Hoxb7-EGFP)33Cos/0
Genetic Background: involves: 129/SvEv * C57BL/6 * CBA * Swiss Webster

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster

 MP:0003703 abnormal vestibulocochlear ganglion morphology "malformed group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0003873 branchial arch hypoplasia "reduced size of the transient structures of the embryo that develop into regions of the head, neck and ears, due to reduced cell number" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0003874 absent branchial arches "missing the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004073 caudal body truncation "caudal part of body truncated with anterior portion relatively normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 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: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0004159 double aortic arch "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0004161 cervical aortic arch "aortic arch is located above the level of the clavicle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004269 abnormal optic cup morphology "any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a1tm1Gdu/Aldh1a1tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004311 otic vesicle hypoplasia "underdevelopment of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear, usually due to a reduction in cell number" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0004550 short trachea "reduced length of the tube descending from the larynx and branching into the right and left main bronchi" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0004551 decreased tracheal cartilage ring number "less than the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

 MP:0004568 fusion of glossopharyngeal and vagus nerve "union of the ninth and tenth cranial nerves into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 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: Gt(ROSA)26Sortm1(RARA*)Clmd/Gt(ROSA)26Sortm1(RARA*)Clmd,Tg(Hoxb7-cre)13Amc/0,Tg(Hoxb7-EGFP)33Cos/0
Genetic Background: involves: 129/SvEv * C57BL/6 * CBA * Swiss Webster

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu,Aldh1a3tm1Gdu/Aldh1a3tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0006031 abnormal branchial pouch morphology "malfomation or anomaly in the series of grooves that form between the branchial arches; these endodermal evaginations develop into epithelial tissues and organs" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0006107 abnormal atrioventricular canal morphology "malformation or anomaly in development of the common canal connecting the primordial atrium and ventricle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93610]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006341 small first branchial arch "reduced size of the first branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006345 absent second branchial arch "missing the second branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006356 abnormal third branchial arch artery morphology "any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0008788 abnormal fetal cardiomyocyte morphology "any structural anomaly of fetal and neonatal heart cells that undergo proliferation and are not yet terminally differentiated into binucleate or multinucleate cardiac myocytes" [PMID:17429040]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0009073 absent Wolffian ducts "absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0009806 abnormal otic vesicle morphology "any structural anomaly of the paired sacs of invaginated ectoderm that develop into the membraneous labyrinth of the inner ear" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0010454 abnormal truncus arteriosis septation "anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

 MP:0010464 abnormal aortic arch and aortic arch branch attachment "any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

 MP:0010465 aberrant origin of the right subclavian artery "the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0010488 abnormal left subclavian artery morphology "any structural anomaly of the artery that extends from the aortic arch to the left side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0010587 conotruncal ridge hypoplasia "underdevelopment or reduced size of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0010642 absent third branchial arch "absence of the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0010643 absent fourth branchial arch "absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0010656 thick myocardium "increased thickness of the heart muscle layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0010939 abnormal mandibular prominence morphology 
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0010940 abnormal maxillary prominence morphology 
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Brca1tm4Cxd/Brca1tm4Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0011232 abnormal vitamin A level "any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238]
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Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Tg(Dll1-cre)1Gos/0
Genetic Background: Not Specified

 MP:0011233 abnormal vitamin A metabolism "altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011260 abnormal head mesenchyme morphology "any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells" [ISBN:0-683-40008-8]
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Allelic Composition: Cyp26a1tm1.1Hmd/Cyp26a1tm1.1Hmd,Cyp26c1tm1.1Keya/Cyp26c1tm1.1Keya
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011732 decreased somite size "reduced size of any of the segmental masses along the notochord of the developing embryo" [MGI:smb]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Aldh1a2tm1Gdu/Aldh1a2tm1Gdu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0012493 absent branchial arch arteries "absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [MGI:anna]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

 MP:0012707 incomplete caudal neuropore closure "incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed" [MGI:anna]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 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: Pax3Sp-2H/Pax3Sp-2H
Genetic Background: involves: NZW

Allelic Composition: Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic Background: involves: CD-1

 MP:0013165 absent forelimb buds "absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)" [MGI:anna]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0013166 small forelimb buds "reduced size of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)" [MGI:anna]
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Allelic Composition: Aldh1a2grim/Aldh1a2grim
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0013168 absent hindlimb buds "absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0013283 failure of ventral body wall closure "failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the head and tail folds that cause the embryo to curve into the fetal position and is complete except in the region of the connecting stalk (future umbilical cord); if closure fails, ventral body wall defects occur in the thorax, abdomen, and pelvis and involve the heart (ectopia cordis), abdominal viscera (gastroschisis), and/or urogenital organs (bladder or cloacal exstrophy), depending upon the location and size of the abnormality" [http://www.nbdpn.org/current/2008pdf/AMPresentations/EmbryologySadler.pdf, https://www.inkling.com/read/langmans-medical-embryology-thomas-sadler-12th/chapter-7/ch07-clinical-correlates-01, MGI:anna]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0030249 small frontonasal prominence "reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
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Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000013584 Q62148 / Aldh1a2 / Retinal dehydrogenase 2 / O94788* / aldehyde dehydrogenase 1 family member A2*  / complex






 

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