This allele comprises a deletion of 32 nucleotides, starting with the second base of phenylalanine codon 238 and ending with the complete threonine codon 248 (chr1:78108913-78108944 (GRCm39)). This deletion removes part of the paired homeodomain of the protein and creates a termination codon immediately downstream of alanine 237 (p.Phe238fs), resulting in a truncated protein that lacks its C-terminal half. The mutation was confirmed by Southern blots and both genomic- and RT-PCR. (J:2944)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/HeH x 101/H)F1
Radiation induced
Intragenic deletion
Semidominant
1
8
35

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

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PMID
Journal
Year
IF
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