Overview

This inbred strain bears a Robertsonian translocation, Rb(11.13)4Bnr, and a spontaneous eye mutation, Rd3^rd3, and was derived from the sibling inbreeding of an F1 cross between a female from the outbred NMRI stock and a wild trapped Mus poschiavinus male from Val Poschiavo, Switzerland. It may be useful for studies of retinal degeneration, cancer, reproduction/meiosis, birth defects, aneuploidy generation, other genomic studies or genetic mapping.

Genetic overview

Genetic Background	Generation

Rd3^rd3

Allele Type	Gene Symbol	Gene Name
Spontaneous	Rd3	retinal degeneration 3

Mc1r^E-tob

Allele Type	Gene Symbol	Gene Name
Spontaneous	Mc1r	melanocortin 1 receptor

Marker(s)

	Marker Symbol	Marker Name
	Rb(11.13)4Bnr	Robertsonian translocation, Chr 11 and 13, Universitat Bonn/Rhein 4
	Rb(11.13)4Bnr	Robertsonian translocation, Chr 11 and 13, Universitat Bonn/Rhein 4

View Genetics

Research Applications

Endocrine Deficiency Research
Sensorineural Research

View All Research Applications

Details

Important Note

This strain is homozygous for retinal degeneration 3, rd3.

Detailed Description

This inbred strain bears a Robertsonian translocation, Rb(11.13)4Bnr, and a spontaneous eye mutation, Rd3^rd3, and was derived from the sibling inbreeding of an F1 cross between a female from the outbred NMRI stock and a wild trapped Mus poschiavinus male from Val Poschiavo, Switzerland. It may be useful for studies of retinal degeneration, cancer, reproduction/meiosis, birth defects, aneuploidy generation, other genomic studies or genetic mapping.

Development

Mus poschiavinus is a species of mouse found in Val Poschiavo, Switzerland. Its genome is organized in a karyotype of 26 chromosomes, instead of the usual 40. This includes 7 pairs of metacentrics, 5 pairs of acrocentrics, and the acrocentric X and Y (Cattanach et al., 1972). Due to the tobacco darkening allele (Mc1r^E-tob) in this population, Mus poschiavinus mice have a black coat color that becomes agouti in the flanks after about 8 weeks of age.

In the late 1960s Alfred Gropp bred a Swiss NMRI female to a wild trapped male from Val Poschiavo, Switzerland and sent the F1 offspring to Frank Ruddle at Yale University who shipped these same F1 hybrids to Tom Roderick at The Jackson Laboratory. These F1 hybrids were sibling intercrossed and several inbred lines were generated from inbreeding of this population. These lines were selected for the presence Robertsonian translocations with the intention of generating inbred strains carrying a single Robertsonian or a defined set of Robertsonians. At F3 two lines separated: line PH was inbred to produce a line homozygous for Rb(16.17)7Bnr; and line PI was further separated at generation F4 into lines PAD and PAC. The PAC line was maintained by sibling intercross and the offspring of the F7 sibling intercross were separated into several further sublines, including PJG and PJI, which were each sibling intercrossed for one generation then cousin intercrossed before again being maintained by sibling intercross. In 1977 this line reached generation F17 and was designated subline N and in 1983 it reached generation F32. While this line was selected to be maintained homozygous for Rb(11.13)4Bnr, it had been maintained segregating for Mc1r^E-tob and Tyr^c, but at some point it became fixed homozygous for Tyr^c. In 1990 when this inbred reached generation F73 an attempt was made to cryopreserve embryos but this was not successful. The strain remained on the shelf in the care of Norman Hawes & Bo Chang and they discovered the retinal degeneration 3 mutation (Rd3^rd3) in it. Because this strain was inbred from an outbred population crossed to a wild male it has a unique genomic makeup compared with other inbred strains and even with other inbred strains derived from the same ancestral F1 population.

Genetics

Rd3^rd3

Allele Symbol: Rd3^rd3

Allele Name	retinal degeneration 3
Allele Type	Spontaneous
Allele Synonym(s)	retinal degeneration 3; Rd3^rd3
Gene Symbol and Name	Rd3, retinal degeneration 3
Gene Synonym(s)	rd-3; rd-3; 3322402L07Rik; RIKEN cDNA 3322402L07 gene; LCA12; C1orf36; 3322402L07Rik; rd3; rd3
Strain of Origin	RBF/DnJ
Chromosome	1
General Note	This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367).
Molecular Note	A C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded.

Mc1r^E-tob

Allele Symbol: Mc1r^E-tob

Allele Name	tobacco darkening
Allele Type	Spontaneous
Allele Synonym(s)	tobacco darkening; Mc1r^E-tob
Gene Symbol and Name	Mc1r, melanocortin 1 receptor
Gene Synonym(s)	Mshra; SHEP2; extension recessive yellow; CMM5; tobacco darkening; e; Tob; MSH-R; e; melanocyte hormone receptor alpha; Mshra; extension, recessive yellow; Mcr1
Strain of Origin	M. m. domesticus poschiavinus
Chromosome	8
Molecular Note	Two independent PCR assays found a C-to-T mutation at position 206 predicted to result in a serine to leucine alteration in codon 69. A second nucleotide C-to-T change results in a silent mutation at position 166. The result is a receptor that is overactive, though responsive to hormone regulation, and produces a greater activation of the MC1R effector, G protein-coupled adenylyl cyclase, than does the wild-type allele.

Rb(11.13)4Bnr

Marker Symbol: Rb(11.13)4Bnr

Marker Synonym(s)	Rb4Bnr
Chromosome(s)	13

Rb(11.13)4Bnr

Marker Symbol: Rb(11.13)4Bnr

Marker Synonym(s)	Rb4Bnr
Chromosome(s)	11

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Mc1r^E-tob related

Endocrine Deficiency Research
- Skin Defects

Genotype: Rd3^rd3 related

Sensorineural Research
- Retinal Degeneration
  - Homozygous for rd3

Mammalian Phenotype Terms by Genotype

References

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25PubMed: 11853768 MGI: J:75095

Additional - Mc1r^E-tob related

Additional - Rd3^rd3 related

Additional - Rb(11.13)4Bnr related

Technical Support

Contact Technical Support

Genotyping Protocols
- Genotyping resources and troubleshooting
Mating System
- Homozygote x Homozygote
Appearance
- albino
  Related Genotype: Tyr^c/Tyr^c Mc1r^E-tob/Mc1r^E-tob

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

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Genetic overview

Marker(s)

Research Applications

Important Note

Detailed Description

Development

Rd3rd3

Allele Symbol: Rd3rd3

Mc1rE-tob

Allele Symbol: Mc1rE-tob

Rb(11.13)4Bnr

Marker Symbol: Rb(11.13)4Bnr

Rb(11.13)4Bnr

Marker Symbol: Rb(11.13)4Bnr

Disease Terms

Research Areas By Genotype

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

Genotype: Mc1rE-tob related

Genotype: Rd3rd3 related

Mammalian Phenotype Terms by Genotype

References

Additional References

Additional - Mc1rE-tob related

Additional - Rd3rd3 related

Additional - Rb(11.13)4Bnr related

Genotyping Protocols

Mating System

Appearance

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Rd3^rd3

Allele Symbol: Rd3^rd3

Mc1r^E-tob

Allele Symbol: Mc1r^E-tob

Genotype: Mc1r^E-tob related

Genotype: Rd3^rd3 related

Additional - Mc1r^E-tob related

Additional - Rd3^rd3 related