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Tcf4em1Bdph
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Tcf4em1Bdph
Name: transcription factor 4; endonuclease-mediated mutation 1, Benjamin D Philpot
MGI ID: MGI:6157962
Synonyms: Tcf4R579W
Gene: Tcf4  Location: Chr18:69344488-69687967 bp, + strand  Genetic Position: Chr18, 43.23 cM, cytoband E2
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Dominant negative)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology was used to introduce a single point mutation, an A-to-T transition at position 1135, resulting in an arginine to tryptophan mutation at amino acid 579 (R579W) that corresponds to the most common Pitt-Hopkins Syndrome mutation in humans R580W. (J:254983)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tcf4 Mutation:  16 strains or lines available
References
Original:  J:254983 Thaxton C, et al., Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci. 2018 Jan 24;38(4):918-936
All:  1 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
06/18/2019
MGI 6.14
The Jackson Laboratory