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Tfap2aMhdador
Chemically induced Allele Detail
Summary
Symbol: Tfap2aMhdador
Name: transcription factor AP-2, alpha; Martin Hrabe de Angelis doarad
MGI ID: MGI:3045427
Synonyms: DEA5, Doarad, Dor, Tfap2aDor
Gene: Tfap2a  Location: Chr13:40868778-40891852 bp, - strand  Genetic Position: Chr13, 20.01 cM, cytoband A5-B1
Alliance: Tfap2aMhdador page
Ocular phenotype of the Tfap2aMhdador/Tfap2aMhdador mouse

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis allele has a C to T missense mutation at position 246 in the PY motif of its transactivation domain, resulting in a proline to leucine substitution at amino acid position 59. (J:90701)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tfap2a Mutation:  39 strains or lines available
References
Original:  J:90701 Ahituv N, et al., An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome. 2004 Jun;15(6):424-32
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