This allele comprises a deletion of at least 28.2 kb including exon 5 and the polyadenylation signal. Analyses of mutant mice indicated truncated transcript expressed at levels lower than those of wild-type. Endogenous protein was undetected in homozygous mutant mice, however the potential for a mutant protein not detected by the antiserum remained. (J:23331)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Peru-Coppock stock
Spontaneous
Intragenic deletion
Recessive
1
2
7

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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