This phenotypic mutant arose spontaneously in a BALB/c colony obtained from Harlan. A B2 element is inserted in exon 7 near the 3' splice site at position 861 of the mRNA. This generates an in-frame stop codon and changes the Ile at residue 260 to 260-ArgAspTrp-262 as well inserting a 15bp duplication of the mRNA sequence from nucleotide 846 to 860. (J:78078, J:96427)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cOlaHsd
Spontaneous
Duplication, Insertion
Dominant
1
--
3

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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