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A point mutation (ACC>ATG) was introduced by site-directed mutagenesis into exon 12 at position 4847 resulting in the amino acid substitution of methionine for threonine (T468M) and a floxed neomycin cassette was inserted within the following intron. Cre-mediated recombination removed the neomycin cassette. The amino acid substitution is a common mutation in Leopard syndrome. (J:216593)
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
