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Strain Name:

C3H/HeSnJ-Ctnna2cdf/J

Stock Number:

002235

Availability:

Repository-Cryopreserved


General Terms and Conditions

Former Name      C3H/HeSnJ-Catna2cdf/J    (Changed: 02-JUN-05 )
      C3H/HeSnJ-cdf/+    (Changed: 15-DEC-04 )
Genes & Alleles   Ctnna2;   Ctnna2cdf;   Pde6b;   Pde6brd1;


Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
Generation+10N6F4+N1

Appearance
agouti
Related Genotype: A/A

Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.

Strain 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.)

Mammalian Phenotype Terms assigned by genotype

Ctnna2cdf/Ctnna2+

        C3H/HeSnJ-Ctnna2cdf/J
  • hearing/vestibular/ear phenotype
  • abnormal linear vestibular evoked potential (J:116914)
    • suprisingly, mice show improved threshold compared to controls

Ctnna2cdf/Ctnna2cdf

        C3H/HeSnJ-Ctnna2cdf/J
  • behavior/neurological phenotype
  • abnormal cued conditioning behavior (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 (J:38887)
    • females take poor care of offspring
  • abnormal tail movements (J:38887)
    • mice often hold their tails off the surface when walking and sometimes arch the tail over their backs
  • ataxia (J:38887)
    • described as a side-to-side wobble
  • increased startle reflex (J:77488)
    • the amplitude of the acoustic startle response was larger in mutant mice
  • limb grasping (J:38887)
  • growth/size phenotype
  • decreased body weight (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 (J:77488)
    • mice exhibit normal auditory brainstem (ABR) responses indicating that mutant mice can hear normally
    • increased startle reflex (J:77488)
      • the amplitude of the acoustic startle response was larger in mutant mice
    • reduced linear vestibular evoked potential (J:116914)
      • elevated threshold
  • hematopoietic system phenotype
  • increased erythrocyte cell number (J:38887)
    • slightly higher than controls, but within values expected for the background strain
  • reproductive system phenotype
  • reduced male fertility (J:38887)
    • males rarely breed
  • nervous system phenotype
  • *normal* nervous system phenotype (J:38887)
    • EEG patterns were similar to controls
    • normal histopathology of the cerebrum, thalamus, brainstem, spinal cord was noted
    • abnormal cerebellar foliation (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
    • abnormal cerebellar granule layer (J:38887)
      • reduced number of granule cells were observed at 5 months of age
    • abnormal cerebellar lobule formation (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 prepulse inhibition (J:77488)
      • a weaker PPI was seen compared to controls
    • abnormal vermis morphology (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 pyramidal neuron number (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 (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 (J:74540)
      • pyramidal cells of the CA1, CA2, and CA3 region were scattered into the external and deep plexiform layers of the hippocampus
    • small cerebellum (J:70222)
      • reduced in overall size compared to controls
      • cerebellum hypoplasia (J:38887)
        • midsagittal area of the mutant cerebellum is ~60% that of control mice

Gene & Allele Details

Allele Symbol Ctnna2cdf
Allele Name cerebellar deficient folia
Common Name(s) cdf;
Strain of OriginC3H/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. [J:77488]
 
Allele Symbol Pde6brd1
Allele Name retinal degeneration 1
Common Name(s) rd; rd-1; rd1; rodless retina;

Control Information

  Allele   Control
 Ctnna2cdf  Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
000002   B6.C3-Pde6brd1 Hps4le/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
005973   C3Bir.129P2(B6)-Il10C3Bir/LtJ
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
001906   C3Ga.Cg-Catb/J
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000784   C3H/HeJ-Faslgld/J
000509   C3H/HeJ-Lystbg-2J/J
002433   C3H/HeJ-Spnb4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002333   C3H/HeSnJ-gri/J
006435   C3HeB.SW-Soaa/MonJ
000658   C3HeB/FeJ
001576   C3HeB/FeJ-Atp7btx-J/J
002588   C3HeB/FeJ-Eya1bor/J
001533   C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
001886   C3HeB/FeJLe a/a-gnd/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/J
001547   C3Sn.Cg-Cm/J
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003078   FVB-Tg(WapIgf1)39Dlr/J
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002374   FVB/N-Tg(MMTV-PyVT)634Mul/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
003487   FVB/NJ-Tg(XGFAP-lacZ)3Mes/J
001491   FVB/NMob
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
100299   PLSJLF1/J
000269   SB/LeJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000939   SWR/J-Clcn1adr-mto/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
100401   WCB6F1/J KitlSl KitlSl-d
View Strains carrying   Pde6brd1     (74 strains)

View Strains carrying other alleles of Pde6b     (8 strains)

Research Applications

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

Ctnna2cdf related

Developmental Biology Research
Neurodevelopmental Defects

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

Pde6brd1 related

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration

References

Additional References

Price and Supply Information

Strain Name: C3H/HeSnJ-Ctnna2cdf/J
Stock Number: 002235

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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Control InformationView Control Information in Strain Details.

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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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