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
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count