The molecular lesion is a 26 bp deletion in exon 1 resulting in a frame shift and the introduction of a premature stop codon. This is predicted to truncate the encoded protein after 85 amino acids (23 endogenous and 62 novel amino acids). (J:272648)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Intragenic deletion
--
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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