Frmd7^{tm1b(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Frmd7^{tm1b(KOMP)Wtsi}
• Name: FERM domain containing 7; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:6489960
• Gene: Frmd7 Location: ChrX:49984057-50031587 bp, - strand Genetic Position: ChrX, 27.82 cM
• Alliance: Frmd7^{tm1b(KOMP)Wtsi} page
• IMPC: Frmd7 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:299010
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Pgk_P cassette was inserted at position 50001214 of Chromosome X upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the PGK promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 50001970. The critical exon 4 is thus flanked by loxP sites. A "conditional ready" (floxed) allele can be created by flp recombinase expression in mice carrying this allele. Subsequent cre expression results in a knockout mouse. A null/knockout allele was created by cre recombinase expression in mice carrying the tm1a allele to remove the neo selection cassette and loxP-flanked critical exon 4. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:299010)

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 Frmd7 Mutation: 5 strains or lines available

References

• Original: J:299010 Salman A, et al., Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN). Genes (Basel). 2020 Sep 30;11(10)
• All: 3 reference(s)