Abcc9<em1Nich> Endonuclease-mediated Allele Detail MGI Mouse (MGI:6389010)

Abcc9^em1Nich
Endonuclease-mediated Allele Detail

Summary

Symbol:	Abcc9^em1Nich
Name:	ATP-binding cassette, sub-family C member 9; endonuclease-mediated mutation 1, Colin G Nichols
MGI ID:	MGI:6389010
Synonyms:	SUR2^AV
Gene:	Abcc9 Location: Chr6:142533588-142648041 bp, - strand Genetic Position: Chr6, 74.35 cM
Alliance:	Abcc9^em1Nich page

Mutation
origin

Strain of Origin:

(C57BL/6J x CBA/J)F2

Mutation
description

Allele Type:		Endonuclease-mediated (Not Applicable)
Mutation:		Single point mutation
		Mutation details: CRISPR/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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	101 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:	4 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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