This ENU induced mutation has been identified as a T-to-A transversion in exon 18, at nucleotide position 2913 of the cDNA sequence (transcript Ccdc171-001; ENSMUST00000053414), resulting in replacement of a codon for cysteine by a translation termination (stop) codon at amino acid position 862 (C862Ter) of the normal 1312-amino acid protein. (J:104190)

Basic Information

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