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Targeted Allele Detail
Symbol: Mthfd1ltm1b(EUCOMM)Wtsi
Name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; targeted mutation 1b, Wellcome Trust Sanger Institute
MGI ID: MGI:5470152
Synonyms: Mthfd1lz
Gene: Mthfd1l  Location: Chr10:3973118-4167081 bp, + strand  Genetic Position: Chr10, 2.06 cM
Germline Transmission:  Earliest citation of germline transmission: J:193285
Parent Cell Line:  JM8A3 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
Project Collection: EUCOMM
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe L1L2_Bact_P cassette was inserted at position 3983594 of Chromosome 10 upstream of the critical exon 5 (Build GRCm38). 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 3984442. 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 22 assay results
In Structures Affected by this Mutation: 10 anatomical structures
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:  76 strains or lines available
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:  1 reference(s)

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MGI 6.12
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