An 11 bp deletion occurs in this mutant, either between bp 2124 and 2134 or between 2129 and 2139. This deletion causes a frame shift which creates a premature stop codon. The resulting protein is 230 amino acids in length as opposed to 495 amino acids for a normal protein. The cytosolic N-terminal, first transmembrane segment and extracellular loop of the protein are preserved. (J:89910)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cByJ
Spontaneous
Intragenic deletion
Recessive
1
5
11

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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