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This spontaneous mutation has a 2 base pair (GT) deletion in Chromosome 7 base pairs 88,618,348 and 88,618,349, which falls in exon 15 and is predicted to cause a frameshift and stop codon at amino acid 572. Western blot analysis failed to detect this protein in homozygotes and detected only half-normal levels in heterozygotes. (J:205908)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
