Mthfd1l^{tm1b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Mthfd1l^{tm1b(EUCOMM)Wtsi}
• Name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; targeted mutation 1b, Wellcome Trust Sanger Institute
• MGI ID: MGI:5470152
• Synonyms: Mthfd1l^z
• Gene: Mthfd1l Location: Chr10:3923118-4117081 bp, + strand Genetic Position: Chr10, 2.06 cM
• Alliance: Mthfd1l^{tm1b(EUCOMM)Wtsi} page
• IMPC: Mthfd1l gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:193285
• Parent Cell Line: JM8A3 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 3933594 of Chromosome 10 upstream of the critical exon 5 (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 neomycin resistance gene under the control of the human beta-actin 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 3934442. The critical exon(s) is/are thus flanked by loxP sites. Cre mediated recombination removed the neo cassette and exon 5 creating a reporter allele. RT-PCR and immunoblot analysis confirmed the absence of transcript and full length protein, respectively, in homozygous embryos. LacZ expression partially recapitulates endogenous gene expression. 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:193285)

Disease models

Expression

In Mice Carrying this Mutation:	22 assay results
In Structures Affected by this Mutation:	9 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 Mthfd1l Mutation: 68 strains or lines available

References

• Original: J:193285 Momb J, et al., Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):549-54
• All: 4 reference(s)