This mutation was identified as a transgene insertion that also deletes approximately 150 kb of genomic sequence at the insertion site. This deletion removes exons 4-14 of Fancl and also removes exons 2-11 of a neighboring gene Vrk2. The transgene contains a fragment of goat DNA. A transgene expressing Vrk2 that was introduced into homozygous mice failed to rescue the phenotype, suggesting that the deletion of Fancl was solely responsible for the phenotype seen in these mice. (J:80424)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(CBA/J x C57BL/6J)F2
--
Insertion, Intergenic deletion
Recessive
1
5
5

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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