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Foxp2tm1Momo
Targeted Allele Detail
Summary
Symbol: Foxp2tm1Momo
Name: forkhead box P2; targeted mutation 1, Takashi Momoi
MGI ID: MGI:3778383
Synonyms: FoxP2R552H
Gene: Foxp2  Location: Chr6:14901348-15441976 bp, + strand  Genetic Position: Chr6, 6.49 cM, cytoband A2
Alliance: Foxp2tm1Momo page
Small body and cerebellum size and abnormal cerebellar foliation in Foxp2tm1Momo/Foxp2tm1Momo 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory