A targeting construct consisting of introns 3-8 was constructed with a nucleotide change (A to G) in exon 5 to mutate amino acid 88 from a glycine to a glutamic acid (G88E). A loxP-flanked neomycin resistance cassette was also introduced into intron 5. Founder mice were bred with EIIa-cre mice to excise the selection cassette, leaving behind a single loxP site in intron 5. Expression of the mutant gene was confirmed by RT-PCR and by immunohistochemistry on inner ear sections. (J:140594)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
--
1
6
2

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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