An FRT flanked neo cassette was inserted into intron 10 and a CA to TG mutation resulting in a threonine to methionine substitution at position 494 (T494M) was introduced in exon 11 via homologous recombination. Additionally a silent mutation eliminating an XmnI digest site was introduced for genotyping purposes. Flp mediated recombination removed the neo cassette. Northern blot analysis indicates the transcript size and level of transcript expression in retinas from homozygous mice are similar to wild-type controls. Western blot analysis confirmed that protein expression in retinas from homozygous mice is similar to wild-type controls. Subcellular localization in retinas from homozygous mice is also similar to wild-type controls. (J:171561)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
4
3

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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