Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names C57BL/6J-Epha4rb-2J/J    (Changed: 22-JUN-09 ) C57BL/6J-rb2J/+    (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype b Generation F200+F23+N1p

Appearance
black, hopping gait
Related Genotype: a/a Epha4^rb-2J/Epha4^rb-2J

black, unaffected
Related Genotype: a/a Epha4^rb-2J/+ or a/a +/?

Important Note
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23^ahl, which on this background causes progressive hearing loss with onset after 10 months of age.

Description
Mice homozygous for the Epha4^rb-2J allele can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail mutants clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength. More severely affected homozygous mutant mice also lean frequently to either side, a phenotype not reported in mice homozygous for the rb allele of Epha4. Homozygous females may deliver 2-3 pups per litter but often exhibit poor nurturing.

Development
The rb^2J allele of the Epha4 gene arose on the C57BL/6J inbred strain as a spontaneous recessive mutation at the Jackson Laboratory in 1997 when that inbred was at F200. This strain has been maintained primarily by breeding homozygous females with heterozygous males. However, because homozygous females are not good breeders and often do not care for their pups well, ovarian transplantation has been used on occasion to maintain this strain. In 2004 this strain reached F200+F18.

Control Information

	Control
	Heterozygote from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Cdh23^ahl allele

001137	129P1/ReJ
000690	129P3/J
000691	129X1/SvJ
000646	A/J
000647	A/WySnJ
003070	ALR/LtJ
003072	ALS/LtJ
004502	B6;AKR-Lxl2/GrsrJ
001026	BALB/cByJ
000653	BUB/BnJ
005494	C3.129S1(B6)-Grm1rcw/J
000664	C57BL/6J
004764	C57BL/6J-Cdh23v-8J/J
004820	C57BL/6J-Kcne12J/J
004703	C57BL/6J-Kcnq2Nmf134/J
004811	C57BL/6J-nmf110/J
004812	C57BL/6J-nmf111/J
004747	C57BL/6J-nmf118/J
004656	C57BL/6J-nmf88/J
004391	C57BL/6J-Chr 13A/J/NaJ
004385	C57BL/6J-Chr 7A/J/NaJ
000662	C57BLKS/J
000667	C57BR/cdJ
000668	C57L/J
000669	C58/J
000657	CE/J
000670	DBA/1J
001140	DBA/1LacJ
000671	DBA/2J
007048	DBA/2J-Gpnmb+/SjJ
002106	KK/HlJ
000675	LG/J
000676	LP/J
000677	MA/MyJ
001976	NOD/ShiLtJ
002050	NOR/LtJ
000679	P/J
002747	SENCARB/PtJ
002335	SKH2/J
003392	STOCK Crb1rd8/J

View Strains carrying   Cdh23^ahl     (40 strains)

Strains carrying other alleles of Cdh23

002756	B6.CAST-Cdh23Ahl+/Kjn
002432	B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J
002552	C57BL/6J-Cdh23v-2J/J
004764	C57BL/6J-Cdh23v-8J/J
004819	C57BL/6J-Cdh23v-9J/J
005016	CByJ;B6-Cdh23v-10J/J
000275	V/LeJ

View Strains carrying other alleles of Cdh23     (7 strains)

Strains carrying other alleles of Epha4

000938	B6 x STOCK Epha4rb/J
001502	C3Sn.B6-Epha4rb/EiGrsrJ

View Strains carrying other alleles of Epha4     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Epha4^rb-2J/Epha4^rb-2J

        C57BL/6J

• behavior/neurological phenotype
• abnormal grip strength (MGI Ref ID J:87289)
  • mutants show a reduced ability to hold onto an edge
  • forelimbs show normal strength
• abnormal locomotor activity (MGI Ref ID J:87289)
  • unlike the less severe rb mutant, rb-2J mutant mice lean frequently to either side
• abnormal gait (MGI Ref ID J:87289)
  • mutant mice can be identified by 2.5-3 weeks of age by a constant hopping gait of the hindlimbs
  • the forelimbs may show a hopping gait or move normally
• abnormal maternal nurturing (MGI Ref ID J:87289)
  • females are poor at nurturing their young
• limb grasping (MGI Ref ID J:87289)
  • mice grasp their hind limbs when picked up by the tail
• endocrine/exocrine gland phenotype
• cryptorchism (MGI Ref ID J:87289)
  • males sometimes have undescended testes and fail to breed
• reproductive system phenotype
• cryptorchism (MGI Ref ID J:87289)
  • males sometimes have undescended testes and fail to breed
• decreased litter size (MGI Ref ID J:87289)
  • females produce small litters
• reduced male fertility (MGI Ref ID J:87289)
  • due to undescended testes

View Research Applications

Research Applications

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

Cdh23^ahl related

Neurobiology Research
Vestibular and Hearing Defects
      Age related hearing loss

Sensorineural Research
Vestibular and Hearing Defects
      Age related hearing loss

Epha4^rb-2J related

Neurobiology Research
Ataxia (Movement) Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Epha4rb-2J
Allele Name		rabbit 2 Jackson
Allele Type		Spontaneous
Strain of Origin		C57BL/6J
Gene Symbol and Name		Epha4, Eph receptor A4
Chromosome		1
Gene Common Name(s)		2900005C20Rik; AI385584; Cek8; HEK8; RGD1560587; RIKEN cDNA 2900005C20 gene; SEK; Sek; Sek1; TYRO1; expressed sequence AI385584; rabbit; rb; segmentation receptor tyrosine kinase;
Molecular Note		The rb2J mouse arose in 1997 at the Jackson Laboratory. This mouse was identified as an allele at the Epha4 locus based complementation analysis using the Epha4Gt(pGT1TM)38Wcs allele. The mutation at the level of the sequence has not been reported. [MGI Ref ID J:87289]
Allele Symbol		Cdh23ahl
Allele Name		age related hearing loss 1
Allele Type		QTL
Common Name(s)		Cdh23753A; mdfw;

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Genotyping resources and troubleshooting

References

References

Selected Reference(s)

Cook SA; Eicher EM; Samples RM; Bronson RT; Davisson MT. 2004. Two spontaneous mutant alleles, rb and rb-2J, of the Epha4 gene on mouse Chromosome 1. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine (http://www.jax.org/mmr) MGI Direct Data Submission :.  [MGI Ref ID J:87289]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	Homozygous males do not breed well. Most homozygous females do not breed well or rear their young well.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply	Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes	Cryopreserved Embryos This strain is also available as cryopreserved embryos. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page. Cryorecovery - Standard. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location). This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23ahl, which on this background causes progressive hearing loss with onset after 10 months of age.

Control Information

	Control
	Heterozygote from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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