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| Nomenclature |
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Symbol:
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Tcof1tm1Mjd
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Name:
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Treacher Collins Franceschetti syndrome 1, homolog;
targeted mutation 1, Michael J Dixon
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MGI ID: |
MGI:2386185 |
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Synonyms: |
Tcof1- |
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Gene:
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Tcof1
Location:
Chr18:60813755-60848971 bp, - strand
Genetic Position: Chr18,
34.41 cM
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Analysis of Tcof1tm1Mjd/Tcof1+ embryos
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:62928
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 1 and the 5' untranslated region were replaced with a neomycin resistance cassette via homologous recombination. The targeted allele was confirmed by PCR genotype analysis. (J:62928)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tcof1 Mutation:
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45 strains or lines available |
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| References |
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Original: |
J:62928
Dixon J et al.,
"Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, treacher collins syndrome"
Hum Mol Genet 2000 Jun 12;9(10):1473-80
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All: |
8 reference(s)
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Analysis Tools
