Overview

This coisogenic strain has a functional allele of Gpnmb. Homozygous mice do not develop the elevated intraocular pressure or glaucoma found in DBA/2J mice (Stock No. 000671), although they exhibit a mild iris stromal atrophy (ISA). This strain provides a genetically matched control for DBA/2J.

Genetic overview

Genetic Background	Generation
	N6F3+F22 (2020-12-03 00:00:00)

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Research Applications

Neurobiology Research
Sensorineural Research
Immunology, Inflammation and Autoimmunity Research
Research Tools

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Base Price

Starting at:

$236.78 Domestic price for female

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Details

Important Note

This strain is homozygous for Cdh23^ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by three months of age.

Detailed Description

This coisogenic strain has a functional allele of Gpnmb. Homozygous mice do not develop elevated intraocular pressure or glaucoma, although they exhibit a mild iris stromal atrophy (ISA). This strain provides a genetically matched control for DBA/2J (Stock No. 000671). The inbred strain DBA/2J is homozygous for the glaucoma-related Gpnmb^R150X and Tyrp1^isa mutations.

Development

The wildtype allele of Gpnmb is present in the mutant strain DBA/2J-Dtnbp1^sdy/J. The sandy mutation occurred in 1983 prior to the appearance of the Gpnmb^R150X mutation in the The Jackson Laboratory DBA/2J production colony. To generate this strain, mice from DBA/2J-Dtnbp1^sdy/J were crossed to "modern" DBA/2J mice, and progeny were selected for the Gpnmb wildtype allele. The wildtype allele was backcrossed to DBA/2J for a minimum of six generations. Dr. Simon John of The Jackson Laboratory provided the colony to the Repository in 2007.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Selected References

Howell GR; Libby RT; Marchant JK; Wilson LA; Cosma IM; Smith RS; Anderson MG; John SW. 2007. Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genet 8(1):45PubMed: 17608931 MGI: J:123136

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Genetics

Gpnmb⁺

Allele Symbol: Gpnmb⁺

Allele Name	wild type
Allele Type	Not Applicable
Allele Synonym(s)
Gene Symbol and Name	Gpnmb, glycoprotein (transmembrane) nmb
Gene Synonym(s)
Site of Expression	Iris of the eys.
Strain of Origin	Not Applicable
Chromosome	6

Hc⁰

Allele Symbol: Hc⁰

Allele Name	deficient
Allele Type	Spontaneous
Allele Synonym(s)	C5-; C5-d; C5-def; C5-deficient; Hc^Hfib2; hc^o
Gene Symbol and Name	Hc, hemolytic complement
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	2
General Note	This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, A/J, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)
Molecular Note	A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, A/J, AKR/J, DBA/2J, I/LnJ, KK/HlJ, MOLF/EiJ, NZB/B1NJ, RF/J, ST/bJ SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5.

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Allele Name	age related hearing loss 1
Allele Type	Spontaneous
Allele Synonym(s)	Cdh23^753A; mdfw
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	10
Molecular Note	Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Cdh23^ahl related

Neurobiology Research
- Hearing Defects
  - Age related hearing loss
Sensorineural Research
- Hearing Defects
  - Age related hearing loss

Genotype: Hc⁰ related

Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - specific complement deficiency
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - specific complement deficiency, C5 complement

Sensorineural Research
- Eye Defects
  - control

Mammalian Phenotype Terms by Genotype

References

Howell GR; Libby RT; Marchant JK; Wilson LA; Cosma IM; Smith RS; Anderson MG; John SW. 2007. Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genet 8(1):45PubMed: 17608931 MGI: J:123136

Additional References

Howell GR; Libby RT; Jakobs TC; Smith RS; Phalan FC; Barter JW; Barbay JM; Marchant JK; Mahesh N; Porciatti V; Whitmore AV; Masland RH; John SW. 2007. Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol 179(7):1523-37PubMed: 18158332 MGI: J:131073

Additional - Cdh23^ahl related

Additional - Gpnmb⁺ related

Additional - Hc⁰ related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Gpnmb<+>
- Sanger sequencing:Gpnmb<+>-SEQ
- Genotyping resources and troubleshooting
Dietary Information
- LabDiet® 5K52 formulation (6% fat)
Breeding Considerations

When maintaining a live colony these mice can be bred as homozygotes.
- Additional Breeding and Husbandry Support
Mating System
- Homozygote x Homozygote
Appearance
- dilute brown
  Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d
Citation
When using the DBA/2J-Gpnmb⁺/SjJ mouse strain in a publication, please include JAX stock #007048 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

AX9 (Standard)

Pricing & Availability

Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous for Gpnmb<+>

Related Products and Services

Frozen Mouse Embryo	DBA/2J-Gpnmb<+>/SjJ	$2595.00
Frozen Mouse Embryo	DBA/2J-Gpnmb<+>/SjJ	$2595.00
Frozen Mouse Embryo	DBA/2J-Gpnmb<+>/SjJ	$3373.50
Frozen Mouse Embryo	DBA/2J-Gpnmb<+>/SjJ	$3373.50

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Gpnmb+

Allele Symbol: Gpnmb+

Hc0

Allele Symbol: Hc0

Cdh23ahl

Allele Symbol: Cdh23ahl

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Cdh23ahl related

Genotype: Hc0 related