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Targeted Allele Detail
Symbol: Ofd1tm1Bfra
Name: oral-facial-digital syndrome 1 gene homolog (human); targeted mutation 1, Brunella Franco
MGI ID: MGI:3620081
Synonyms: Ofd1delta4-5
Gene: Ofd1  Location: ChrX:166390033-166440704 bp, - strand  Genetic Position: ChrX, 77.28 cM
Germline Transmission:  Earliest citation of germline transmission: J:106035
Parent Cell Line:  TBV2 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsExons 4 and 5 were flanked by loxP sites via homologous recombination. The Frt flanked neo cassette was removed by Flp recombinase in the ES cells. After Cre mediated recombination RT-PCR confirmed absence of these exons from transcripts in mutants and Western blot analysis failed to detect protein from recombined embryos. This allele was generated from Ofd1tm2.1 (J:106035)
View phenotypes for all genotypes (concatenated display).
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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 Ofd1 Mutation:  7 strains or lines available
Original:  J:106035 Ferrante MI, et al., Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet. 2006 Jan;38(1):112-7
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
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