The molecular lesion is a a ~30 kb deletion that encompasses exon 5 and has endpoints within a pair of LINE elements. PCR typing showed that the ~30 kb deletion is present in both R1 ES cells and in 129X1/SvJ mice, but not in the closely related 129S1/SvlmJ or 129S6/SvEvTac strains. (J:228899)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Spontaneous
Intragenic deletion
--
1
8
1

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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