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Tcof1tm1Mjd
Targeted Allele Detail
Summary
Symbol: Tcof1tm1Mjd
Name: treacle ribosome biogenesis factor 1; targeted mutation 1, Michael J Dixon
MGI ID: MGI:2386185
Synonyms: Tcof1-
Gene: Tcof1  Location: Chr18:60946827-60982043 bp, - strand  Genetic Position: Chr18, 34.41 cM
Alliance: Tcof1tm1Mjd page
Analysis of Tcof1tm1Mjd/Tcof1+ embryos

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:62928
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 54 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 55 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 Tcof1 Mutation:  106 strains or lines available
References
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
All:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory