The mutation comprises the insertion of a single cytosine nucleotide (C) within a stretch of Cs located between nucleotides 1083 and 1087 of the mRNA sequence (Genbank accession NM_011530), in the fifth of the gene's 12 exons; the number of Cs in the sequence is increased from five to six. The resulting frameshifted transcript is predicted to encode aberrant amino acids from position 312 to 361 and to terminate prematurely at position 362. (J:159355)

Basic Information

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

Title
PMID
Journal
Year
IF
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