Nox3<het-2J> Spontaneous Allele Detail MGI Mouse (MGI:1857794)

Nox3^het-2J
Spontaneous Allele Detail

Summary

Symbol:	Nox3^het-2J
Name:	NADPH oxidase 3; head tilt 2 Jackson
MGI ID:	MGI:1857794
Gene:	Nox3 Location: Chr17:3685515-3746536 bp, - strand Genetic Position: Chr17, 2.05 cM
Alliance:	Nox3^het-2J page

Mutation
origin

Strain of Origin:

B10.Q-H2^q/SgJ

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: The mutation in the het-2J mouse was identified as a G-to-A substitution at coding nucleotide position 1222 (c.1222G>A), replacing a glycine residue with an arginine at position 408 (p.G408R). The glycine residue is highly conserved and is part of an NADPH binding site. (J:89010)
Inheritance:		Recessive

Phenotypes

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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Nox3 Mutation:	38 strains or lines available

Notes

The head-leaning and circling are more dramatic than the original het mutation. However, ABR (auditory-evoked brainstem response) testing of three 5-week old homozygotes and heterozygotes showed normal hearing indistinquishable from wild-type controls and the original het/het mutants. Viability and fertility of both sexes of mice are normal; although trampling of pups is common(J:56803).

References

Original:	J:56803 Cook S, The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports. MGI Direct Data Submission. 1999;
All:	2 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23