Fat1^tm1Fhel
Targeted Allele Detail

Summary

• Symbol: Fat1^tm1Fhel
• Name: FAT atypical cadherin 1; targeted mutation 1, Francoise Helmbacher
• MGI ID: MGI:5524119
• Synonyms: Fat1^fln
• Gene: Fat1 Location: Chr8:45388484-45505294 bp, + strand Genetic Position: Chr8, 24.81 cM
• Alliance: Fat1^tm1Fhel page

Scapulohumeral muscle shape abnormalities in Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3⁺ Tg(Myl1-lacZ)1Ibdml/0 embryos

Show the 1 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 (Conditional ready, Hypomorph) Mutation: Insertion 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. Quantitative RT-PCR confirmed reduced transcript expression. This allele is hypomorphic. (J:199157)

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

Disease models

Expression

In Structures Affected by this Mutation:

1 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 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: 1 reference(s)