This allele is defined by a noncomplementation test with Lystbg. This mutation is the result of a 3 bp in-frame deletion in exon 54 causing the loss of one of the two consecutive isoleucines at codon 3740 and 3741 near the carboxy terminus of the protein. This deletion affects the WD40 domain. (J:7539, J:173521)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Intragenic deletion
Recessive
1
2
35

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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