A gpt-neo cassette replaced exons 5 through 7, encoding the regulatory binding region, conserved tandem repeats, and a carboxyl-terminal domain specific to the basic Calponin. RT-PCR analysis of homozygous mutant embryos showed an absence of basic transcript in both healthy and healing bone tissue. Western blot analysis confirmed an absence of the basic protein in homozygous mutant mice. (J:77112)
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