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Abcc9em1Nich
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Abcc9em1Nich
Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 9; endonuclease-mediated mutation 1, Colin G Nichols
MGI ID: MGI:6389010
Synonyms: SUR2AV
Gene: Abcc9  Location: Chr6:142587862-142702315 bp, - strand  Genetic Position: Chr6, 74.35 cM
Mutation
origin
Strain of Origin:  (C57BL/6J x CBA/J)F2
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology using gRNA 5' CATTGCCACGAAGCTGGC-GG 3' introduced a C to T change at position 1427 resulting in an alanine to valine substitution at amino acid 476 (A476V). This corresponds to the human A478V mutation associated with Cantu Syndrome. (J:281903)
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: 9 anatomical structures
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 Abcc9 Mutation:  4 strains or lines available
References
Original:  J:281903 Huang Y, et al., Cardiovascular consequences of KATP overactivity in Cantu syndrome. JCI Insight. 2018 Aug 9;3(15)
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
02/23/2021
MGI 6.16
The Jackson Laboratory