Exons 20 and 21 were deleted by homologous recombination. This sequence encodes the signature and Walker B motifs of the first ATP-binding domain, both critical for protein function. The splicing was predicted to cause a frame shift, creating a stop codon encoded by nucleotides 9-11 of exon 22. Western blot of mutant tissue lysates from brain, heart, lung and others confirmed deletion of the exons. (J:96865)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Intragenic deletion
--
1
2
11

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