This allele contains a T to A point mutation at position 1022 in exon 11, creating an early stop codon and removing 133 residues from the C-terminus of the polypeptide chain. Loss of these amino acids prevented formation of the second of two transmembrain domains. Western blot against antibodies for the amino terminal showed an absence of protein in whole cell extracts and supernatant. (J:96018)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
Recessive
1
5
9

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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