A premature stop codon along with an IRES-lacZ cassette and loxP-flanked neo cassette was inserted into exon 12. This mutation is similar to a nonsense mutation identified in human patients and Japanese Brown cattle. The mutation results in truncation of the encoded protein at position 695. After germline transmission of the mutation, the floxed PGK-neo cassette was removed by breeding with Mox2-Cre mice. Beta-galactosidase staining of a mutant humerus indicated that lacZ is expressed in the growth plate cartilage, perichondrium, ossified tissues and in muscles. (J:226455)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion
--
1
7
6

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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