A genomic fragment encompassing 319 bp upstream of exon 1, exon 1, and approximately 2kb of intron 1 was replaced with a PGK-hprt cassette inserted by homologous recombination. The aberrant integration of additional sequence derived from the targeting vector was identified downstream of the 3' arm of homology. Whole mount in situ hybridization showed a lack of normal transcript in homozygous mutant mice. Immunohistochemical staining confirmed the absence of protein in the retina, the cornea, and retinal pigmented epithelium. (J:67361)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Intragenic deletion
--
1
1
5

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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