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Zfp469em1Chms
Endonuclease-mediated Allele Detail
Summary
Symbol: Zfp469em1Chms
Name: zinc finger protein 469; endonuclease-mediated mutation 1, Chloe M Stanton
MGI ID: MGI:6765940
Synonyms: Zfp469BCS
Gene: Zfp469  Location: Chr8:122985359-122999389 bp, + strand  Genetic Position: Chr8, 70.85 cM
Alliance: Zfp469em1Chms page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Epitope tag, Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsCRISPR/Cas9 technology inserted an in-frame V5 tag and a premature stop codon at glycine 634 (p.Gly634) prior to the C2H2 zinc-finger domains. The V5 tag contains a spontaneously arising A>T mutation, resulting in the amino acid change Asn>Ile at position 5 in the V5 tag. RT-qPCR confirmed the presence of a truncated transcript. The stop codon at Gly634 corresponds to one of the brittle cornea syndrome mutations p.Gly677* in human. (J:311083)
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: 7 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 Zfp469 Mutation:  15 strains or lines available
References
Original:  J:311083 Stanton CM, et al., A mouse model of brittle cornea syndrome caused by mutation in Zfp469. Dis Model Mech. 2021 Sep 1;14(9):dmm049175
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
03/19/2024
MGI 6.23
The Jackson Laboratory