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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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 C3H/HeSnJ-Catna2cdf/J (Changed: 02-JUN-05 ) C3H/HeSnJ-cdf/+ (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 Generation +10N6F4+N1 Appearance
agouti
Related Genotype: A/AImportant Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.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.)
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
004297 B6.CXB1-Pde6brd10/J 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
assigned by genotype
Ctnna2cdf/Ctnna2+
C3H/HeSnJ-Ctnna2cdf/J
- hearing/vestibular/ear phenotype
- abnormal linear vestibular evoked potential (MGI Ref ID J:116914)
- suprisingly, mice show improved threshold compared to controls
Ctnna2cdf/Ctnna2cdf
C3H/HeSnJ-Ctnna2cdf/J
- behavior/neurological phenotype
- abnormal cued conditioning behavior (MGI Ref ID J:77488)
- 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 (MGI Ref ID J:38887)
- females take poor care of offspring
- abnormal tail movements (MGI Ref ID J:38887)
- mice often hold their tails off the surface when walking and sometimes arch the tail over their backs
- ataxia (MGI Ref ID J:38887)
- described as a side-to-side wobble
- increased startle reflex (MGI Ref ID J:77488)
- the amplitude of the acoustic startle response was larger in mutant mice
- limb grasping (MGI Ref ID J:38887)
- growth/size phenotype
- decreased body weight (MGI Ref ID J:38887)
- mice weigh approximately 25% less than littermate controls before weaning, mice weigh approximately 50% less than littermate controls throughout adulthood
- hearing/vestibular/ear phenotype
- *normal* hearing/vestibular/ear phenotype (MGI Ref ID J:77488)
- mice exhibit normal auditory brainstem (ABR) responses indicating that mutant mice can hear normally
- increased startle reflex (MGI Ref ID J:77488)
- the amplitude of the acoustic startle response was larger in mutant mice
- reduced linear vestibular evoked potential (MGI Ref ID J:116914)
- elevated threshold
- hematopoietic system phenotype
- increased erythrocyte cell number (MGI Ref ID J:38887)
- slightly higher than controls, but within values expected for the background strain
- reproductive system phenotype
- reduced male fertility (MGI Ref ID J:38887)
- males rarely breed
- nervous system phenotype
- *normal* nervous system phenotype (MGI Ref ID J:38887)
- EEG patterns were similar to controls
- normal histopathology of the cerebrum, thalamus, brainstem, spinal cord was noted
- abnormal cerebellar granule layer (MGI Ref ID J:38887)
- reduced number of granule cells were observed at 5 months of age
- abnormal cerebellar lobule formation (MGI Ref ID J:70222)
- most lobules are shortened in length
- lobulation began between P2 and P4 instead of P0 as in controls
- lobulation continued to be delayed past the first postnatal week
- abnormal vermis morphology (MGI Ref ID J:38887)
- mineral deposits seen in the ventral vermis of the midline
- vermis is reduced in rostro-caudal length by more than one third
- decreased prepulse inhibition (MGI Ref ID J:77488)
- a weaker PPI was seen compared to controls
- decreased pyramidal neuron number (MGI Ref ID J:74540)
- in the pyramidal cell layer, pyramidal cells were less densely packed compared to wild-type mice, and occasionally appears as isolated cells
- ectopic Purkinje cell (MGI Ref ID J:38887)
- Purkinje cells were observed in the granule cell layer and in the white matter
- a failure of Purkinje cell migration during development results in widespread ectopia in the adult
- 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
- ectopic Purkinje cells were those primarily not expressing zebrin II
- 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 pyramidal neurons (MGI Ref ID J:74540)
- pyramidal cells of the CA1, CA2, and CA3 region were scattered into the external and deep plexiform layers of the hippocampus
- reduced cerebellar foliation (MGI Ref ID J:70222)
- the precentral fissure between lobules II and III is rudimentary
- folia is reduced to 7 as contrasted with the wild-type folia count of 10; foliation pattern is also perturbed
- absence of intraculmenate fissure that divides the culmen into two lobules, 4 and 5
- absence of the declivis 6a and 6b
- absence of fissura seconda that separates the pyramis 8 from the uvula 9
- absence of uvula 9b and 9c
- at P0 and P2, cerebella lacked fissures unlike controls
- the prepyramidal fissure appeared at P8
- small cerebellum (MGI Ref ID J:70222)
- reduced in overall size compared to controls
- cerebellum hypoplasia (MGI Ref ID J:38887)
- midsagittal area of the mutant cerebellum is ~60% that of control mice
This mouse can be used to support research in many areas including:Ctnna2cdf related
Pde6brd1 relatedDevelopmental Biology Research
Neurodevelopmental Defects
Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
Purkinje cell defect
Neurodevelopmental Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Ctnna2cdf | ||
|---|---|---|---|
| Allele Name | cerebellar deficient folia | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | cdf; | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Ctnna2, catenin (cadherin associated protein), alpha 2 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | AI481747; CAP-R; CAPR; CTNR; Catna; Catna2; DKFZp686H02198; alpha N-catenin; alpha catenin 2; alpha(N)-catenin; alpha-catenin (cadherin-associated protein); catenin alpha 2; cdf; cerebellar deficient folia; cerebellar hypoplasia; chp; expressed sequence AI481747; | ||
| 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. [MGI Ref ID J:77488] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
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
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):42-51. [PubMed: 11413545] [MGI Ref ID 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):108-12. [PubMed: 9060409] [MGI Ref ID 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):286-301. [PubMed: 12794733] [MGI Ref ID 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):32-41. [PubMed: 11835672] [MGI Ref ID 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):135-8. [PubMed: 11013084] [MGI Ref ID J:65079]
Ctnna2cdf relatedBeierbach 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):42-51. [PubMed: 11413545] [MGI Ref ID J:70222]
Bock NA; Kovacevic N; Lipina TV; Roder JC; Ackerman SL; Henkelman RM. 2006. In vivo magnetic resonance imaging and semiautomated image analysis extend the brain phenotype for cdf/cdf mice. J Neurosci 26(17):4455-9. [PubMed: 16641223] [MGI Ref ID J:108407]
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):108-12. [PubMed: 9060409] [MGI Ref ID J:38887]
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]
Park C; Falls W; Finger JH; Longo-Guess CM; Ackerman SL. 2002. Deletion in Catna2, encoding alpha N-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation. Nat Genet 31(3):279-84. [PubMed: 12089526] [MGI Ref ID J:77488]
Park C; Finger JH; Cooper JA; Ackerman SL. 2002. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis 32(1):32-41. [PubMed: 11835672] [MGI Ref ID J:74540]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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.Ordering and Purchasing Information
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