Ptpn11^tm1.1Ics

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Species

Mus musculus

Symbol

Ptpn11^tm1.1Ics

Category

allele

Allele of gene

Ptpn11

Transgenic Constructs

None

Synonyms

• Ptpn11^T468M

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations