The sequence defect underlying this mutant phenotype was identified a 7.8 kb insertion into intron 13 of the gene. The insertion contains repetitive elements similar to the T cell receptor locus. Northern analysis from cerebellum, heart and brain failed to detect any transcript using a probe from exons 16-19. However, transcript was detected in testis at reduced levels. (J:74929)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
SM/J
Spontaneous
Insertion
Recessive
--
--
3

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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