Overview

Also Known As:cerebellar deficient folia

These mice carry a spontaneous mutation at the Ctnna2 locus characterized by an abnormal gait and abnormal brain development.

Genetic overview

Genetic Background	Generation

Ctnna2^cdf

Allele Type	Gene Symbol	Gene Name
Spontaneous	Ctnna2	catenin (cadherin associated protein), alpha 2

View Genetics

Research Applications

Developmental Biology Research
Neurobiology Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Important Note

This strain is homozygous for the retinal degeneration allele Pde6b^rd1.

Detailed Description

Cerebellar deficient folia (cdf) is a recessive mutation which maps to chromosome 6. Homozygotes display a constant side-to-side wobble in their gait that is apparent as early as 2 weeks of age. Additionally, they often hold their tails off the surface or arch them over their heads while moving. Smaller size is detectable in homozygotes by two weeks of age, at weaning they weigh approximately 25% less than littermate controls, and as adults they weigh, on average, 50% less. These mutants live a normal life span (one-and-a-half to two years on the C3H/HeJ background), but homozygous males rarely breed and homozygous females are poor mothers requiring transfer of litters to foster mothers.

The cdf mutation causes a hypoplastic and dysmorphic cerebellum. On the C3H/HeJ background, homozygotes have only 7 cerebellar folia rather than the 10 present in wildtype, and the folia pattern is abnormal. Their vermis is one-third smaller than wildtype in rostro-caudal length and the ventral vermis contains concentric mineral deposits. Ectopic Purkinje cells (mostly zebrin II-negative) are in the deep core of the cerebellum between the cerebellar nuclei, in the granular cell layer, and in the intralobular white matter. BrdU analysis indicates that these ectopic Purkinje cells, like Pukinje cells in wildtype mice, are generated during embryonic days 11-13. The overall number of Purkinje cells in homozygotes is relatively normal. The Perkinje cell defect appears to result from a failure in dispersion of the zebrin II-negative subpopulation. (Cook et al., 1997; Beierbach et al., 2001.)

Development

The cerebellar deficient folia mutation (cdf) arose spontaneously in the coisogenic mutant subline C3H/HeJ-Pou1f1^dw-J/J in 1986, when that mutant subline was at generation F136+16N6F8. The cdf mutant line was initially maintained by sibling inbreeding through progeny tested heterozygotes and selecting away the dwarf Jackson mutation. In 1989, when this mutant subline was at F10, it was outcrossed to C3H/HeSnJ then maintained predominantly by backcross-intercross to C3H/HeSnJ, reaching N6 in 1992. It was then maintained by sibling inbreeding and between 1994 and 1996 embryos were cryopreserved from C3H/HeSnJ females bred to heterozygous males at generation F10N6F4 and beyond.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Ctnna2^cdf

Allele Symbol: Ctnna2^cdf

Allele Name	cerebellar deficient folia
Allele Type	Spontaneous
Allele Synonym(s)	cdf
Gene Symbol and Name	Ctnna2, catenin (cadherin associated protein), alpha 2
Gene Synonym(s)
Strain of Origin	C3H/HeJ-Pou1f1^dw-J/J
Chromosome	6
Molecular Note	This mutation was discovered in a mouse colony in 1985 at The Jackson Laboratory. The phenotype has been attributed to a deletion of ~150 kb that includes the 3' UTR and sequences encoding the last 96 amino acids of the gene.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Ctnna2^cdf related

Developmental Biology Research
- Neurodevelopmental Defects
Neurobiology Research
- Ataxia (Movement) Defects
- Neurodevelopmental Defects
- Cerebellar Defects
  - Purkinje cell defect

Mammalian Phenotype Terms by Genotype

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

Genotype: Ctnna2^cdf/Ctnna2^cdf
C3Sn.C3-Ctnna2/J

behavior/neurological phenotype

abnormal cued conditioning behavior
- a test in which an auditory cue was coupled with a foot shock failed to elicit a startle response to the auditory cue after training in mutant mice

abnormal maternal nurturing
- females take poor care of offspring

abnormal tail movements
- mice often hold their tails off the surface when walking and sometimes arch the tail over their backs

ataxia
- described as a side-to-side wobble

increased startle reflex
- the amplitude of the acoustic startle response was larger in mutant mice

limb grasping

mammalian phenotype

hearing/vestibular/ear phenotype
- Normal - mice exhibit normal auditory brainstem (ABR) responses indicating that mutant mice can hear normally

nervous system phenotype
- Normal - EEG patterns were similar to controls
- Normal - normal histopathology of the cerebrum, thalamus, brainstem, spinal cord was noted

nervous system phenotype

abnormal cerebellar granule layer morphology
- reduced number of granule cells were observed at 5 months of age

abnormal cerebellar lobule formation
- lobulation began between P2 and P4 instead of P0 as in controls
- lobulation continued to be delayed past the first postnatal week
- most lobules are shortened in length

abnormal cerebellum vermis morphology
- mineral deposits seen in the ventral vermis of the midline
- vermis is reduced in rostro-caudal length by more than one third

cerebellum hypoplasia
- midsagittal area of the mutant cerebellum is ~60% that of control mice

decreased hippocampus pyramidal cell number
- in the pyramidal cell layer, pyramidal cells were less densely packed compared to wild-type mice, and occasionally appears as isolated cells

decreased prepulse inhibition
- a weaker PPI was seen compared to controls

ectopic hippocampus pyramidal cells
- pyramidal cells of the CA1, CA2, and CA3 region were scattered into the external and deep plexiform layers of the hippocampus

ectopic Purkinje cell
- a failure of Purkinje cell migration during development results in widespread ectopia in the adult
- at P0, Purkinje cells are scattered throughout the white matter
- at P4, some Purkinje cells had aligned in a single layer, but many remained at ectopic sites
- ectopic Purkinje cells were those primarily not expressing zebrin II
- Purkinje cells were observed in the granule cell layer and in the white matter
- the cells are not arranged in the normal monolayer in the cerebellum and appear in the deep core of the cerebellum, the granular layer, and the intralobular white matter
- total numbers of Purkinje cells appeared similar in mutant mice and controls

reduced cerebellar foliation
- absence of fissura seconda that separates the pyramis 8 from the uvula 9
- absence of intraculmenate fissure that divides the culmen into two lobules, 4 and 5
- absence of the declivis 6a and 6b
- absence of uvula 9b and 9c
- at P0 and P2, cerebella lacked fissures unlike controls
- folia is reduced to 7 as contrasted with the wild-type folia count of 10; foliation pattern is also perturbed
- the precentral fissure between lobules II and III is rudimentary
- the prepyramidal fissure appeared at P8

small cerebellum
- reduced in overall size compared to controls

reproductive system phenotype

reduced male fertility
- males rarely breed

growth/size/body region phenotype

decreased body weight
- mice weigh approximately 25% less than littermate controls before weaning, mice weigh approximately 50% less than littermate controls throughout adulthood

hearing/vestibular/ear phenotype

reduced linear vestibular evoked potential
- elevated threshold

hematopoietic system phenotype

increased erythrocyte cell number
- slightly higher than controls, but within values expected for the background strain

Genotype: Ctnna2^cdf/Ctnna2⁺
C3Sn.C3-Ctnna2/J

hearing/vestibular/ear phenotype

abnormal linear vestibular evoked potential
- suprisingly, mice show improved threshold compared to controls

References

Additional References

Beierbach E; Park C; Ackerman SL; Goldowitz D; Hawkes R. 2001. Abnormal dispersion of a purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf). J Comp Neurol 436(1):42-51PubMed: 11413545 MGI: J:70222
Cook SA; Bronson RT; Donahue LR; Ben-Arie N; Davisson MT. 1997. Cerebellar deficient folia (cdf): a new mutation on mouse chromosome 6. Mamm Genome 8(2):108-12PubMed: 9060409 MGI: J:38887
Marzban H; Khanzada U; Shabir S; Hawkes R; Langnaese K; Smalla KH; Bockers TM; Gundelfinger ED; Gordon-Weeks PR; Beesley PW. 2003. Expression of the immunoglobulin superfamily neuroplastin adhesion molecules in adult and developing mouse cerebellum and their localisation to parasagittal stripes. J Comp Neurol 462(3):286-301PubMed: 12794733 MGI: J:83943
Park C; Finger JH; Cooper JA; Ackerman SL. 2002. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis 32(1):32-41PubMed: 11835672 MGI: J:74540
Park C; Longo CM; Ackerman SL. 2000. Genetic and physical mapping of the cerebellar deficient folia (cdf) locus on mouse chromosome 6 Genomics 69(1):135-8PubMed: 11013084 MGI: J:65079

Additional - Ctnna2^cdf related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Separated PCR:Ctnna2 SEP PCR
- Genotyping resources and troubleshooting
Appearance
- agouti
  Related Genotype: A/A
Citation
When using the cerebellar deficient folia mouse strain in a publication, please cite the originating article(s) and include JAX stock #002235 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/Product	Description	Price
	Heterozygous or Wild-type for Ctnna2<cdf>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Also Known As:cerebellar deficient folia

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Ctnna2cdf

Allele Symbol: Ctnna2cdf

Disease Terms

Research Areas By Phenotype

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

Genotype: Ctnna2cdf related

Mammalian Phenotype Terms by Genotype

Genotype: Ctnna2cdf/Ctnna2cdfC3Sn.C3-Ctnna2/J

behavior/neurological phenotype

mammalian phenotype

nervous system phenotype

reproductive system phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

hematopoietic system phenotype

Genotype: Ctnna2cdf/Ctnna2+C3Sn.C3-Ctnna2/J

hearing/vestibular/ear phenotype

References

Additional References

Additional - Ctnna2cdf 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

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

Ctnna2^cdf

Allele Symbol: Ctnna2^cdf

Genotype: Ctnna2^cdf related

Genotype: Ctnna2^cdf/Ctnna2^cdf
C3Sn.C3-Ctnna2/J

Genotype: Ctnna2^cdf/Ctnna2⁺
C3Sn.C3-Ctnna2/J

Additional - Ctnna2^cdf related