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 CByJ.A-Ttc7+? Atp2b2dfw-2J/J    (Changed: 03-AUG-06 ) CByJ.A-fsn+? Atp2b2dfw-2J/J    (Changed: 15-APR-05 ) CBy.A-fsn+? Atp2b2dfw-2J/J    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N19+N1F4pN1 Generation Definitions

Appearance
albino, ataxic
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyc^c Atp2b2^dfw-2J/Atp2b2^dfw-2J

albino, unaffected
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Atp2b2^dfw-2J/+ or A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c +/+

Description
The deaf waddler 2J allele (Atp2b2^dfw-2J) arose spontaneously in a congenic substrain of BALB/cByJ mice, CByJ.A-fsn/J. Homozygous mutant mice are viable, but neither sex will breed. They are recognizable by 12-14 days of age by their hesitant, wobbly gait and head bobbing behavior. Homozygotes also develop a slight body tremor and become increasingly lethargic. Homozygous mutant mice are profoundly deaf, exhibiting no discernible auditory brainstem responses (ABR) to stimuli up to 100 dB. Heterozygous Atp2b2^dfw-2J mutant mice also show age-dependent changes in ABR and progressive hearing loss as a result of a modifier allele (ahl) present in BALB/cByJ mice.

Control Information

	Control
	Heterozygote from the colony
	Wild-type from the colony
	001026 BALB/cByJ
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Atp2b2

016172	B6(C3)-Atp2b2Lilo/JtJ
003892	B6;BKS-Atp2b2dfw-3J/J
001276	C3H/HeJ-Atp2b2dfw/J

View Strains carrying other alleles of Atp2b2     (3 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Recessive 12; DFNB12   (ATP2B2)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Atp2b2^dfw-2J/Atp2b2⁺

        CByJ.A-Atp2b2^dfw-2J/J

• hearing/vestibular/ear phenotype
• deafness
  • show age-dependent hearing loss by 12 weeks of age   (MGI Ref ID J:38429)
• increased or absent threshold for auditory brainstem response
  • at 4 to 5 weeks of age, significantly elevated sound pressure thresholds   (MGI Ref ID J:38429)
• increased susceptibility to age-related hearing loss
  • hearing loss begins 4 weeks after birth and progresses rapidly to complete deafness by 12 weeks of age   (MGI Ref ID J:38429)
• reduced linear vestibular evoked potential
  • elevated threshold and reduced amplitudes   (MGI Ref ID J:116914)

Atp2b2^dfw-2J/Atp2b2^dfw-2J

        CByJ.A-Atp2b2^dfw-2J/J

• hearing/vestibular/ear phenotype
• absent linear vestibular evoked potential
  • VESPs are absent at the maximum stimulus intensity used   (MGI Ref ID J:116914)
• deafness
  • profoundly deaf   (MGI Ref ID J:38429)
  • complete deafness at 3 weeks after birth   (MGI Ref ID J:38429)
• increased or absent threshold for auditory brainstem response
  • no discernible auditory brainstem responses (ABR) to stimuli up to 100 dB   (MGI Ref ID J:38429)
• behavior/neurological phenotype
• abnormal gait
  • walk with a hesitant and wobbly gait   (MGI Ref ID J:38429)
• abnormal reflex
  • abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior   (MGI Ref ID J:116914)
• ataxia
  • highly unbalanced and uncontrolled movements starting by 12-14 days of age   (MGI Ref ID J:38429)
• head bobbing   (MGI Ref ID J:38429)
• impaired swimming
  • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface   (MGI Ref ID J:116914)
• lethargy
  • becomes increasingly lethargic   (MGI Ref ID J:38429)
• tremors
  • a slight body tremor   (MGI Ref ID J:38429)
• reproductive system phenotype
• infertility
  • life span is normal, but neither sex breeds   (MGI Ref ID J:38429)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX^® Services jaxservices@jax.org for customized breeding options.

Atp2b2^dfw-2J/Atp2b2⁺ Cdh23⁺/Cdh23⁺

        involves: CAST/Ei * BALB/cByJ

• hearing/vestibular/ear phenotype
• *normal* hearing/vestibular/ear phenotype   (MGI Ref ID J:70964)
  • in a mapping cross heterozygosity for deaf waddler 2 Jackson is found to have normal hearing when the age related hearing loss allele is absent proving this to be the recessive deafness-enhancing modifier, which is absent in CAST/Ei   (MGI Ref ID J:38429)

View Research Applications

Research Applications

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

Atp2b2^dfw-2J related

Cell Biology Research
Channel and Transporter Defects
      calcium

Neurobiology Research
Ataxia (Movement) Defects
Channel and Transporter Defects
      calcium
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Atp2b2dfw-2J
Allele Name		deaf waddler 2 Jackson
Allele Type		Spontaneous
Common Name(s)		dfw-2J;
Strain of Origin		CByJ.A-Ttc7fsn/J
Gene Symbol and Name		Atp2b2, ATPase, Ca++ transporting, plasma membrane 2
Chromosome		6
Gene Common Name(s)		D6Abb2e; DNA segment, Chr 6, Abbott 2e; PMCA2; PMCA2a; PMCA2i; Tmy; deaf waddler; dfw; jog; joggle; tommy; wms; wri; wriggle; wriggle mouse Sagami;
Molecular Note		A 2 bp nucleotide deletion at positions 1368 and 1369 cause a frameshift that results in a premature stop and truncation of the encoded protein at position 471. [MGI Ref ID J:48969]

Genotyping

Genotyping Information

Genotyping Protocols

Atp2b2^dfw-2J, Pyrosequencing
Atp2b2^dfw-2J, End Point Analysis

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Street VA; McKee-Johnson JW; Fonseca RC; Tempel BL; Noben-Trauth K. 1998. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. Nat Genet 19(4):390-4. [PubMed: 9697703]  [MGI Ref ID J:48969]

Additional References

McCullough BJ; L Tempel B. 2004. Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia. Hear Res 195(1-2):90-102. [PubMed: 15350283]  [MGI Ref ID J:92390]

Noben-Trauth K; Zheng QY; Johnson KR; Nishina PM. 1997. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44(3):266-72. [PubMed: 9325047]  [MGI Ref ID J:38429]

Atp2b2^dfw-2J related

Duncan JL; Yang H; Doan T; Silverstein RS; Murphy GJ; Nune G; Liu X; Copenhagen D; Tempel BL; Rieke F; Krizaj D. 2006. Scotopic visual signaling in the mouse retina is modulated by high-affinity plasma membrane calcium extrusion. J Neurosci 26(27):7201-11. [PubMed: 16822977]  [MGI Ref ID J:110230]

Johnson KR; Zheng QY; Noben-Trauth K. 2006. Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091(1):79-88. [PubMed: 16579977]  [MGI Ref ID J:110459]

Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133]  [MGI Ref ID J:116914]

Kurnellas MP; Nicot A; Shull GE; Elkabes S. 2005. Plasma membrane calcium ATPase deficiency causes neuronal pathology in the spinal cord: a potential mechanism for neurodegeneration in multiple sclerosis and spinal cord injury. FASEB J 19(2):298-300. [PubMed: 15576480]  [MGI Ref ID J:105109]

McCullough BJ; L Tempel B. 2004. Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia. Hear Res 195(1-2):90-102. [PubMed: 15350283]  [MGI Ref ID J:92390]

Noben-Trauth K; Zheng QY; Johnson KR; Nishina PM. 1997. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44(3):266-72. [PubMed: 9325047]  [MGI Ref ID J:38429]

VanHouten J; Sullivan C; Bazinet C; Ryoo T; Camp R; Rimm DL; Chung G; Wysolmerski J. 2010. PMCA2 regulates apoptosis during mammary gland involution and predicts outcome in breast cancer. Proc Natl Acad Sci U S A 107(25):11405-10. [PubMed: 20534448]  [MGI Ref ID J:161282]

VanHouten JN; Neville MC; Wysolmerski JJ. 2007. The calcium-sensing receptor regulates plasma membrane calcium adenosine triphosphatase isoform 2 activity in mammary epithelial cells: a mechanism for calcium-regulated calcium transport into milk. Endocrinology 148(12):5943-54. [PubMed: 17823248]  [MGI Ref ID J:131135]

Zheng QY; Johnson KR. 2001. Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. Hear Res 154(1-2):45-53. [PubMed: 11423214]  [MGI Ref ID J:70964]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
	Wild-type from the colony
	001026 BALB/cByJ
Considerations for Choosing Controls
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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