Frs2^tm1Schl
Targeted Allele Detail

Summary

• Symbol: Frs2^tm1Schl
• Name: fibroblast growth factor receptor substrate 2; targeted mutation 1, Joseph Schlessinger
• MGI ID: MGI:3521833
• Synonyms: Frs2a^2F, Frs2alpha^2F, Frs2^tm1Lan
• Gene: Frs2 Location: Chr10:116905332-116984439 bp, - strand Genetic Position: Chr10, 65.09 cM
• Alliance: Frs2^tm1Schl page

Profound defects in cerebral cortex development of Frs2^tm1Schl/Frs2^tm1Schl mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94724
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: Point mutations were introduced into the genomic sequence so that the encoded protein contained phenylalanine in place of tyrosine at amino acid positions 436 and 471, which disrupted the binding site for protein tyrosine phosphatase, non-receptor type 11 (also known as Shp2). A loxP-flanked neomycin resistance cassette was inserted into the fourth intron. Mice bearing this mutant allele were crossed to mice expressing Cre recombinase, under control of the human cytomegalovirus promoter/enhancer, to delete the neo cassette in the germline. Immunoblot analysis demonstrated similar levels of expression of mutant and wild-type protein in homozygous mutant and wild-type mice, respectively. (J:94724)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Frs2 Mutation: 64 strains or lines available

References

• Original: J:94724 Gotoh N, et al., Tyrosine phosphorylation sites on FRS2alpha responsible for Shp2 recruitment are critical for induction of lens and retina. Proc Natl Acad Sci U S A. 2004 Dec 7;101(49):17144-9
• All: 9 reference(s)