Exon 3 was deleted by germ line, cre-mediated recombination. Deletion of exon three results in an aberrant splice product with a premature termination condon 6 nucleotides downstream. The absence of full length protein product was confirmed by western blot analysis on P12 testis extracts. A smaller molecular weight protein band was detected at low levels. (J:136834)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Intragenic deletion
--
1
2
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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