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Gja8dcm
Spontaneous Allele Detail
Summary
Symbol: Gja8dcm
Name: gap junction protein, alpha 8; dense cataract and microphthalmia
MGI ID: MGI:3052418
Gene: Gja8  Location: Chr3:96820882-96833336 bp, - strand  
Alliance: Gja8dcm page
Mutation
origin
Strain of Origin:  BALB/c
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsMapping and sequence analysis of the dense cataract and microphthalmia (dcm) mouse identified a single nucleotide change of G to C at position 64 that results in the amino acid glycine to arginine substitution at position 22 (p.G22R). (J:292883)
Inheritance:    Recessive
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Gja8 Mutation:  33 strains or lines available
References
Original:  J:91434 Kohale K, et al., Dense cataract and microphthalmia--new spontaneous mutation in BALB/c mice. Comp Med. 2004 Jun;54(3):275-9
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