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A 1440-bp deletion occurred between intron 22 and exon 23. As a result, the donor site of exon 22 and the 4 following bases are retained in the mRNA. This includes a premature stop codon. The resulting mRNA is 500 bases shorter than normal and 91 amino acids are deleted from the protein product. Only two cytosolic amino acid residues past the eighth transmembrane domain are translated. Crossing to mice carrying a wild-type cDNA transgene confirmed the identity of this spontaneous mutation. (J:105797)
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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References Literature
Title
PMID
Journal
Year
IF
