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Aldh1a2grim
Chemically induced Allele Detail
Summary
Symbol: Aldh1a2grim
Name: aldehyde dehydrogenase family 1, subfamily A2; grimace
MGI ID: MGI:5004939
Synonyms: gri
Gene: Aldh1a2  Location: Chr9:71123071-71203525 bp, + strand  Genetic Position: Chr9, 39.85 cM
Alliance: Aldh1a2grim page
Contorted facial expression in E9.5-10.5 Aldh1a2grim/Aldh1a2grim embryos

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  129S1/Sv or C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA T-to-C base pair change in intron 4 of the gene disrupts splicing and leads to premature termination of translation of the encoded protein. Quantitative RT-PCR indicates expression in homozygotes is less than 1% that in wild-type embryos. (J:171522, J:185330)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 17 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Aldh1a2 Mutation:  38 strains or lines available
References
Original:  J:171522 Sandell LL, et al., A phenotype-driven ENU mutagenesis screen identifies novel alleles with functional roles in early mouse craniofacial development. Genesis. 2011 Apr;49(4):342-59
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory