The mutant transcript was analyzed by RT-PCR and found to be lacking the 59-nucleotide exon 4 (of 6 total exons). The nature of the mutation at the genomic DNA level has not been determined. Deletion of exon 4 is predicted to shift the reading frame after amino acid 43, adding 4 aberrant amino acids and creating a premature stop codon that would truncate the protein after amino acid 47. (J:133273)

Basic Information

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

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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