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Gja8R205G
Spontaneous Allele Detail
Nomenclature
Symbol: Gja8R205G
Name: gap junction protein, alpha 8; Arg205Gly
MGI ID: MGI:5489751
Synonyms: Nm2249
Gene: Gja8  Location: Chr3:96913566-96926020 bp, - strand  Genetic Position: Chr3, 42.03 cM
Dense nuclear cataracts in heterozygous and homozygous Gja8R205G mice and microphthalmia in homozygotes

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  CWXS/Agl
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous C to G point mutation results in the amino acid substitution of glycine for arginine at position 205 (R205G). (J:195727)
Inheritance:    Semidominant
The spontaneous Gja8R205G mutant has a C to G missense mutation
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gja8 Mutation:  23 strains or lines available
References
Original:  J:156373 Chang B, et al., Mouse models of ocular diseases. Vis Neurosci. 2005 Sep-Oct;22(5):587-93
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory