A 5.3kb region, encompassing exons 4 through 18, was replaced by an Hprt minigene. The vector was designed such that the excision of the inserted cassette and potential subsequent splicing of exon 3 to exon 19 would introduce a frameshift mutation. Such a transcript was not found, however, a fusion transcript consisting of the first three exons of the endogenous gene aberrantly spliced to exons 3 through 9 of the Hprt transgene was identified by RT-PCR and sequence analysis. Because exons 1 through 3 encode a putatively non-functional region of the protein, the mutation was believed to be null. (J:69769)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Intragenic deletion
--
1
--
56

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top