Litaf^tm1.1Cwc
Targeted Allele Detail

Summary

• Symbol: Litaf^tm1.1Cwc
• Name: LPS-induced TN factor; targeted mutation 1.1, Chi-Wing Chow
• MGI ID: MGI:6887477
• Synonyms: Simple^fl, Simple^T115N
• Gene: Litaf Location: Chr16:10777137-10810985 bp, - strand Genetic Position: Chr16, 6.28 cM, cytoband B1-B3
• Alliance: Litaf^tm1.1Cwc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:314784
• Parent Cell Line: PTL1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Threonine codon 115 (ACC) in exon 3 was changed to asparagine (AAC)(p.T115N) and a loxP site was inserted into intron 2 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 3. The neo cassette was removed through subsequent flp-mediated recombination. The mutation mimics the human mutation associated with CharcotMarieTooth disease type 1C (CMT1C). (J:314784)

Disease models

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 Litaf Mutation: 14 strains or lines available

References

• Original: J:314784 Zhu H, et al., Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Mol Biol Cell. 2013 Jun;24(11):1619-37, S1-3
• All: 1 reference(s)