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Targeted Allele Detail
Symbol: Fat1tm1Fhel
Name: FAT atypical cadherin 1; targeted mutation 1, Francoise Helmbacher
MGI ID: MGI:5524119
Synonyms: Fat1fln
Gene: Fat1  Location: Chr8:44935447-45052257 bp, + strand  Genetic Position: Chr8, 24.81 cM
Scapulohumeral muscle shape abnormalities in Fat1tm1Fhel/Fat1tm1Fhel Pax3tm1(cre)Joe/Pax3+ Tg(Myl1-lacZ)1Ibdml/0 embryos

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:199157
Parent Cell Line:  iTL1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
Mutation detailsA loxP site was inserted upstream of exon 24. An FRT- and loxP-flanked neomycin resistance cassette was inserted downstream of exon 25. Quantitative RT-PCR confirmed reduced transcript expression. This allele is hypomorphic. (J:199157)
Generation of the Fat1tm1Fhel, Fat1tm1.1Fhel, and Fat1tm1.2Fhel alleles
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
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 Fat1 Mutation:  2 strains or lines available
Original:  J:199157 Caruso N, et al., Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy. PLoS Genet. 2013 Jun;9(6):e1003550
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory