A targeting vector was designed to replace the sequence encoding the homeodomain in exons 20 and 21 with a neomycin resistance gene. Immunoblot of mutant thymic nuclear extracts confirmed absence of wild-type protein and presence of a smaller protein equivalent to the predicted size of the mutant protein containing only 4 amino acids of the homeodomain and a deletion of the C-terminal repression domain. This band was present at a reduced intensity compared to the wild-type band in controls, suggesting the remaining protein has partial function and is a hypomorph. (J:100055)

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
2
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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