Leucine 263 in exon 9 was changed to alanine by site directed mutagenesis. A neomycin resistance cassette flanked by loxP sites was inserted 0.5 kb downstream of exon 9. Sequencing analysis confirmed the mutation. The floxed neomycin cassette was excised in vivo by Cre mediated recombination. Western blot analysis using extracts from the cerebellum showed that the total protein expression levels were similar to wild-type mice. Immunostaining showed reduced or absent expression along the Sertoli cell basal membrane. (J:157170)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
8
1

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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