The gene trap cassette inserted into intron 5 of the gene. This is predicted to result in a disruption of the majority of the sequence that encodes the helicase domain, loss of the BRCA1 interaction domain, and partial loss of the nuclear localization sequence. The MLH1 interaction domain, encoded within exon 5, remains intact. Western blot analysis confirmed loss of the encoded protein in MEF and testis lysates from homozygous mutant mice. (J:227115, J:227337)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Gene trapped
Insertion of gene trap vector
--
1
11
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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