Foxp2^tm1Momo
Targeted Allele Detail

Summary

• Symbol: Foxp2^tm1Momo
• Name: forkhead box P2; targeted mutation 1, Takashi Momoi
• MGI ID: MGI:3778383
• Synonyms: FoxP2^R552H
• Gene: Foxp2 Location: Chr6:14901348-15441976 bp, + strand Genetic Position: Chr6, 6.49 cM, cytoband A2
• Alliance: Foxp2^tm1Momo page

Small body and cerebellum size and abnormal cerebellar foliation in Foxp2^tm1Momo/Foxp2^tm1Momo mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:132813
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: Exon 17 was replaced with an exon 17 that contained a nucleotide substitution resulting in an amino acid substitution of histidine for arginine at position 552 (R552H). A floxed neo cassette was inserted downstream of exon 17 but was removed by transient cre expression. This mutation corresponds to human mutation R553H of FOXP2 that results in speech-language disorders. (J:132813)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Foxp2 Mutation: 52 strains or lines available

References

• Original: J:132813 Fujita E, et al., Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells. Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):3117-22
• All: 5 reference(s)