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A G-to-A point mutation occurred at the exon 2/intron 2 splice site that resulted in the activation of a cryptic splice site. This caused a 98-bp deletion in the mature mRNA and introduced a premature stop codon. The truncated transcript was produced in mast cells but was quickly degraded before any detectable protein product could be made. This mutation was found to be present in all non-outbred strains of black mice from Miss Lathrop's albino lineage (e.g. C57BL/6, C57BL/10, C58, C57L, C57Br/cd) but not in BALB/c or 129 mouse strains. (J:31582)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
