A 1061 bp fragment encompassing 2 exons, encoding a portion of the cytoplasmic domain including the catalytic site, was replaced with a neomycin selection cassette inserted by homologous recombination. While, mutant transcript lacking the targeted fragment was detected by RT-PCR analysis of cochlear RNA obtained from homozygous mutant mice, protein was undetected by immunostaining. Absence of protein was further verified using antisera to the C-terminal. (J:85926)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Intragenic deletion
--
1
5
4

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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