A 5.5 kb region containing exons 2-4 (encoding amino acids 19-105) was replaced with a neomycin resistance cassette via homologous recombination. Homozygous mutant animals lacked protein product as determined by Western blot analysis of retinal proteins. Mutant retinas failed to express the long form of G protein, beta 5 (GNB5-L), although normal amounts of its mRNA were still present; however, a normal protein level of the short form GNB5-S was detected in the retina and striatum of mutant mice. (J:60188, J:83620)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
3
18

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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