A PGK-neomycin resistance cassette inserted into the paternally derived maternal gene replaced 0.27kb of coding sequence including exon 6 and portions of exons 5 and 7. Northern blot analysis of heterozygous ES cells using a cDNA probe for exons 7-10 detected a fusion transcript produced by the disrupted allele that is larger than the wild-type transcript. Northern blot analysis of brain tissue from heterozygous mutant mice using a neo probe also detected the larger transcript, and did not detect any transcript using a probe for the deleted sequences. Immunoblot analysis using human antisera did not detect protein in brain from heterozygous mutant mice. (J:47318)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
6
4

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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