Exons 1, 2, and 3 as well as 5 kb of the proximal promoter were deleted via cre mediated recombination of single loxP sites in the 5' untranslated region and intron 3. Though complete transcriptional ablation was previously reported by Csankocszki et al., 1999 (J:75502), Turner et al., 2002 (J:80117) reported an endogenous testis-specific transcript that utilizes an upstream promoter in wild-type mice and therefore is putatively present in mutant mice. The deleted region encoded a domain essential for X chromosome inactivation. (J:75502, J:80117)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
Targeted
Intragenic deletion
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7

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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