The mutation is an intergenic deletion spanning approximately 13.48 Kb of the gene (7.89 Kb upstream and 5.36 Kb downstream of exon 3, inclusive). The mutation is predicted to cause a frameshift in the translation of the encoded protein resulting in truncation after 91 amino acids. QRT-PCR confirmed reduced transcript expression at E10.5. (J:194385)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Spontaneous
Intragenic deletion
Recessive
1
2
2

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top