Fat1<tm1.2Fhel> Targeted Allele Detail MGI Mouse (MGI:5524121)

Fat1^tm1.2Fhel
Targeted Allele Detail

Summary

Symbol:	Fat1^tm1.2Fhel
Name:	FAT atypical cadherin 1; targeted mutation 1.2, Francoise Helmbacher
MGI ID:	MGI:5524121
Synonyms:	Fat1^deltaTM
Gene:	Fat1 Location: Chr8:45388484-45505294 bp, + strand Genetic Position: Chr8, 24.81 cM
Alliance:	Fat1^tm1.2Fhel page

Shapes of selective facial and scapulohumeral muscles are altered in Fat1^tm1.2Fhel/Fat1^tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 fetuses

Show the 5 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:199157
Parent Cell Line:	iTL1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Mutation
description

Allele Type:		Targeted (Hypomorph)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A loxP site was inserted upstream of exon 24. An FRT- and loxP-flanked neomycin resistance cassette was inserted downstream of exon 25. Cre-mediated recombination removed the neomycin resistance cassette and exons 24 to 25, which encode the transmembrane domain. (J:199157)

Generation of the Fat1^tm1Fhel, Fat1^tm1.1Fhel, and Fat1^tm1.2Fhel alleles

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	208 strains or lines available

References

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:	3 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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