Ptpn11^tm4.2Bgn

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Species

Mus musculus

Symbol

Ptpn11^tm4.2Bgn

Category

allele

Allele of gene

Ptpn11

Transgenic Constructs

None

Synonyms

• Ptpn11^LS
• Ptpn11^Y279C

Description

A loxP site was inserted upstream of exon 7. An inverted modified exon 7 with a nucleotide substitutions that result in the amino acid substitution of cysteine for tyrosine at position 279 (Y279C) with a 5' loxP site was flanked by loxP511 sites and inserted downstream of exon 7 along with an FRT flanked neo cassette. Flp-mediated recombination removed the neo cassette, and cre-mediated recombination removed the endogenous exon 7 and reverted the orientation of the modified exon 7. The amino acid substitution is one of the two most common mutations in Leopard syndrome.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations