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Zfp423em8Haml
Endonuclease-mediated Allele Detail
Summary
Symbol: Zfp423em8Haml
Name: zinc finger protein 423; endonuclease-mediated mutation 8, Bruce Hamilton
MGI ID: MGI:6781902
Synonyms: Zfp423-del(R760-D764), Zfp423R760 delta15
Gene: Zfp423  Location: Chr8:88388438-88686223 bp, - strand  Genetic Position: Chr8, 42.29 cM, cytoband C4
Alliance: Zfp423em8Haml page
Mutation
origin
Strain of Origin:  FVB/NJ
Mutation
description
Allele Type:    Endonuclease-mediated (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR-targeting deleted 15 bp (p.del(R768-D772)) removing the zinc fingers required for SMAD protein interaction, which corresponds to the deletion p.del(R760-D764) observed in human patients with midline brain defects. (J:296537)
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 Zfp423 Mutation:  274 strains or lines available
References
Original:  J:296537 Deshpande O, et al., ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities. PLoS Genet. 2020 Sep;16(9):e1009017
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
04/30/2024
MGI 6.23
The Jackson Laboratory