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A T583M mutation (ACA to ATG) was created in exon 16 using site-directed mutagenesis and then knocked into the open reading frame. A floxed neo cassette used for ES cell selection was removed by cre-mediated recombination via a cross to a deleter Cre line (not specified). Insertion of the point mutations was confirmed by sequencing exon 16 in ES cells. Comparable protein expression to wild-type was confirmed by western blot and RT-PCR of 3 week old growth plate cartilage. (J:125086)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
