Overview

Also Known As: waddles

wdl homozygotes display a side-to-side wobble in their gait as early as two weeks of age and this persists throughout life. Despite this, they can swim in a straight line.

Genetic overview

Genetic Background	Generation

Car8^wdl

Allele Type	Gene Symbol	Gene Name
Spontaneous	Car8	carbonic anhydrase 8

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Research Applications

Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

wdl homozygotes display a side-to-side wobble in their gait as early as two weeks of age and this persists throughout life. Despite this, they can swim in a straight line.

Development

The waddles mutation arose spontaneously in the C57BLKS/J production colony at The Jackson Laboratory in 1995 when that strain was at F104. The waddles bearing strain has been maintained by sibling mating and in 2004 reached F24.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Jiao Y; Yan J; Zhao Y; Donahue LR; Beamer WG; Li X; Roe BA; Ledoux MS; Gu W. 2005. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics 171(3):1239-46PubMed: 16118194 MGI: J:103673
Harris BS; Ward-Bailey PF; Johnson KR; Bronson R; Davisson MT. 2003. A new mutation, waddles (wdl), on mouse Chromosome 4. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine MGI Direct Data SubmissionMGI: J:81344

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Genetics

Car8^wdl

Allele Symbol: Car8^wdl

Allele Name	waddles
Allele Type	Spontaneous
Allele Synonym(s)	waddles; Car8^wdl
Gene Symbol and Name	Car8, carbonic anhydrase 8
Gene Synonym(s)	Carp; Cals1; CA-RP VIII; carbonic anhydrase related polypeptide; CAMRQ3; wdl; expressed sequence AW546993; wdl; waddles; CA-VIII; carbonic anhydrase-like sequence 1; AW546993; CALS; Cals1; CARP; Carp; CA-RP
Strain of Origin	C57BLKS/J
Chromosome	4
General Note	This mutation arose at The Jackson Laboratory.
Molecular Note	Mutant mice contain a 19-nucleotide deletion, 15 of which are flanked by two AAGG motifs. Car8 transcript is absent in homozygous mice, suggesting that this is a null mutation.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

cerebellar ataxia, mental retardation and dysequlibrium syndrome

Research Areas By Genotype

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

Neurobiology Research
- Ataxia (Movement) Defects

Genotype: Car8^wdl related

Neurobiology Research
- Ataxia (Movement) Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Car8^wdl/Car8^wdl
C57BLKS/J-Car8/GrsrJ

behavior/neurological phenotype

abnormal gait
- this mutant has an odd waddling walk throughout life

abnormal motor learning
- motor learning on the rotarod improves at P30 but not over the 12 trials at P90 or P360

ataxia
- side-to-side movements are obvious by 2 weeks of age

impaired coordination
- chlorzoxazone treatment improves motor performance on the rotarod, although it does not completely rescue the phenotype to control levels
- motor performance on the rotarod declines with age

tremors
- as tremor amplitude increases with age, the frequency decreases
- mice develop a severe tremor with age

hearing/vestibular/ear phenotype

abnormal auditory brainstem response
- Background Sensitivity - hearing of mutant and control is abnormal by 7 months of age due to C57BLKS/J background

nervous system phenotype

abnormal cerebellar molecular layer
- Normal - however, mice do not exhibit cerebellar neurodegeneration or Purkinje cell loss with age
- molecular layer thickness is decreased at P15 and P30, but not at later stages, suggesting a developmental delay

abnormal cerebellum morphology
- the patterning of the cerebellum into zones is spatially and temporally altered

abnormal innervation
- chlorzoxazone does not reconfirgure the miswired cerebellar circuit map
- cuneocerebellar and spinocerebellar proprioceptive pathways exhibit overlapping domains
- the adult spinocerebellar sensory map is not sharply delineated, with the topography of the afferent map less clear at P90 compared to P30
- the wiring of cerebellar sensory maps is poorly coordinated

abnormal neuron physiology
- chlorzoxazone, a muscle relaxant, corrects several properties of Purkinje cell firing
- Purkinje cell activity is severely impaired, with Purkinje cells firing with long pauses
- Purkinje cell firing is already compromised in pre-weaned developing pups, with Purkinje cells firing more rapidly and with even less regularity than controls
- Purkinje cells fire erratically on the whole, however they also exhibit higher regularity during firing

References

Jiao Y; Yan J; Zhao Y; Donahue LR; Beamer WG; Li X; Roe BA; Ledoux MS; Gu W. 2005. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics 171(3):1239-46PubMed: 16118194 MGI: J:103673
Harris BS; Ward-Bailey PF; Johnson KR; Bronson R; Davisson MT. 2003. A new mutation, waddles (wdl), on mouse Chromosome 4. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine MGI Direct Data SubmissionMGI: J:81344

Additional - Car8^wdl related

Technical Support

Contact Technical Support

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black, waddles
  Related Genotype: a/a Car8^wdl/Car8^wdl
  
  black, unaffected
  Related Genotype: a/a Car8^wdl/+
Citation
When using the waddles mouse strain in a publication, please cite the originating article(s) and include JAX stock #004625 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous for Car8<wdl>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

Related Products and Services

Frozen Mouse Embryo	C57BLKS/J-Car8<wdl>/GrsrJ	$2595.00
Frozen Mouse Embryo	C57BLKS/J-Car8<wdl>/GrsrJ	$2595.00
Frozen Mouse Embryo	C57BLKS/J-Car8<wdl>/GrsrJ	$3373.50
Frozen Mouse Embryo	C57BLKS/J-Car8<wdl>/GrsrJ	$3373.50

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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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Also Known As: waddles

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Car8wdl

Allele Symbol: Car8wdl

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

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

Genotype: Car8wdl related

Mammalian Phenotype Terms by Genotype

Genotype: Car8wdl/Car8wdlC57BLKS/J-Car8/GrsrJ

behavior/neurological phenotype

hearing/vestibular/ear phenotype

nervous system phenotype

References

Additional - Car8wdl related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

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

Car8^wdl

Allele Symbol: Car8^wdl

Genotype: Car8^wdl related

Genotype: Car8^wdl/Car8^wdl
C57BLKS/J-Car8/GrsrJ

Additional - Car8^wdl related