A genomic fragment encompassing exons 8 through 16 was replaced with a Hprt minigene. Full length transcript was undetected by RT-PCR analysis of homozygous mutant spleen tissue. Analysis of homozygous mutant MEFs identified aberrant transcript in which exon 7 had spliced to exon 17. Sequence analysis indicated a frameshift mutation at the aberrant splice junction, affecting downstream sequence encoding the HA-binding region. Western blot analyses of homozygous spleen tissue and MEFs did not detect protein corresponding with the mutant transcript. (J:86065)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion
--
1
--
8

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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