This allele was generated, along with Hnf4tm1.1Gonz, by breeding mice carrying Hnf4tm1Gonz with transgenic mice expressing cre recombinase via the EIIa promoter. Expression of cre resulted in the excision of exons 4 and 5 as well as the floxed neomycin cassette. Northern blot and RT-PCR analyses identified a truncated transcript. Sequence analysis showed that the deletion intoduced a frameshift mutation via the splicing of exons 3 and 6. Western blot analysis confirmed the presence of a shortened peptide, putatively lacking several functional domains, including the A and T boxes, the ligand-binding domain, and the activation function 2 domain. (J:67396)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Intragenic deletion
--
1
11
6

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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