This 53,008 bp deletion, spanning from Chr 13: 76,815,703 bp to 76,868,709 bp deletes all of exons 11-15, 7,270 bp of flanking intron 10-11 and 40,908 bp of flanking intron 15-16, and is expected to eliminate the third C2 deomain and the two transmembrane helices, in addition to disrupting an enhancer of Nr2f1. (J:264553)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/10SnJ
Spontaneous
Intragenic deletion
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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