This mutation was discovered in an ENU mutagenesis screen. A T-to-C single nucelotide substitution in codon 35 is predicted to change the 35th amino acid of the encoded protein from phenylalanine (Phe) to leucine (Leu), located in the first predicted extracellular loop. Immunohistochemistry experiments with a polyclonal antibody that recognizes the unique C-terminus of the protein showed that the mutant protein is expressed in a spatiotemporal manner similar to the normal protein. (J:152154)

Basic Information

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

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

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PMID
Journal
Year
IF
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