Former Names BALB/cByJ Agtpbp1pcd-3J-Bmp5se-6J/J (Changed: 21-FEB-06 ) Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F3pN1 (05-JUN-05)
Generation DefinitionsDescription
The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal.Development
The cauliflower ear 6 Jackson mutation arose spontaneously on the BALB/cByJ-Agtpbp1pcd-3J/J background at The Jackson Laboratory in 2004 and was maintained on this background by sibling intercrossing. In 2005 sperm was cryopreserved from homozygous males at generation +F4. When recovered from cryopreservation the recessive pcd-3J mutation was found still segregating in this cryopreserved mutant subline.
Facebase: spontaneous mutations
003485 A/J-frg/GrsrJ 006446 B10.Cg-H2h4 Sh3pxd2bnee/GrsrJ 007710 B6(129P2)-Mmp14sabe/GrsrJ 008753 B6(129P2)-shsn/GrsrJ 004235 B6(AKR)-PfasSofa/GrsrJ 008568 B6(CAST)-Prkralear/GrsrJ 003916 B6(Cg)-Col2a1sedc/GrsrJ 001934 B6(D2)-LmnaDhe/TyGrsrJ 005717 B6(NOD) H2g7-Sostdc1shk/GrsrJ 005624 B6(V) Lepob-whe/GrsrJ 005068 B6.C-PhexHyp-Duk/J 006428 B6.Cg-Hydinhyrh/GrsrJ 007947 B6;129P2-He/GrsrJ 012724 B6;C3Fe-Col2a1M2J/GrsrJ 002018 B6C3Fe a/a-din/J 005412 BALB/cByJ-Fgfr1Eask/GrsrJ 004476 C3H/HeJ-snol/GrsrJ 003950 C57BL/6-PhexHyp-2J/J 004507 C57BL/6-stn/GrsrJ 005598 C57BL/6J-Arsbm1J/GrsrJ 004246 C57BL/6J-sbse/GrsrJ 005420 C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/GrsrJ 005421 CBy;B6-Bmp5cfe-se8J/GrsrJ 004423 DBA/1LacJ-Lrp4mdig/GrsrJ 006857 STOCK Frem2ne/GrsrJ View Facebase: spontaneous mutations (25 strains)
Strains carrying Agtpbp1pcd-3J allele
003237 BALB/cByJ-Agtpbp1pcd-3J/J View Strains carrying Agtpbp1pcd-3J (1 strain)
Strains carrying other alleles of Agtpbp1
000537 B6.BR-Agtpbp1pcd/J 001037 B6C3Fe a/a-Agtpbp1pcd/J 005011 C57BL/6J-Agtpbp1pcd-6J/J 004518 DBA/2J-Agtpbp1pcd-5J/GrsrJ View Strains carrying other alleles of Agtpbp1 (4 strains)
Strains carrying other alleles of Bmp5
000004 ABP/LeJ 000578 B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J 001496 B6(Cg)-Bmp5se-4J/J 000056 B6.Cg-Bmp5se/J 000285 B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J 005420 C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/GrsrJ 005421 CBy;B6-Bmp5cfe-se8J/GrsrJ 000253 DLS/LeJ 000644 SEA/GnJ 000270 SEC/1GnLeJ View Strains carrying other alleles of Bmp5 (10 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
Bmp5cfe-se6J/Bmp5cfe-se6J
BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ
- craniofacial phenotype
- abnormal ear shape
- the ear pinnae are ruffled around the perimeter (MGI Ref ID J:148680)
- small ears
- ears are smaller than normal (MGI Ref ID J:148680)
- hearing/vestibular/ear phenotype
- abnormal ear shape
- the ear pinnae are ruffled around the perimeter (MGI Ref ID J:148680)
- small ears
- ears are smaller than normal (MGI Ref ID J:148680)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Agtpbp1pcd-3J related
Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
Purkinje cell defect
Neurodegeneration
Sensorineural Research
Retinal Degeneration
| Allele Symbol | Agtpbp1pcd-3J | ||
|---|---|---|---|
| Allele Name | Purkinje cell degeneration 3 Jackson | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | BALB/cByJ | ||
| Gene Symbol and Name | Agtpbp1, ATP/GTP binding protein 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | 1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik; BB114605; CCP1; NNA1; Purkinje cell degeneration; RIKEN cDNA 1700020N17 gene; RIKEN cDNA 2310001G17 gene; RIKEN cDNA 2900054O13 gene; RIKEN cDNA 4930445M19 gene; RIKEN cDNA 5730402G09 gene; expressed sequence BB114605; nmf243; pcd; | ||
| Molecular Note | This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and sizeusing probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8. [MGI Ref ID J:74929] | ||
| Allele Symbol | Bmp5cfe-se6J | ||
| Allele Name | cauliflower ear short ear 6 Jackson | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | BALB/cByJ-Agtpbp1pcd-3J/J | ||
| Gene Symbol and Name | Bmp5, bone morphogenetic protein 5 | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | AU023399; expressed sequence AU023399; se; short ear; | ||
| Molecular Note | A failed complementation test with the Bmp5cfe-se7J mutation showed that this mutation is an allele of Bmp5. | ||
Curtain M; Bauschatz J; Hurd J; Giggey J; Donahue LR. 2009. A Remutation to Cauliflower Ear MGI Direct Data Submission :. [MGI Ref ID J:148680]
Agtpbp1pcd-3J relatedBerezniuk I; Sironi J; Callaway MB; Castro LM; Hirata IY; Ferro ES; Fricker LD. 2010. CCP1/Nna1 functions in protein turnover in mouse brain: Implications for cell death in Purkinje cell degeneration mice. FASEB J 24(6):1813-23. [PubMed: 20061535] [MGI Ref ID J:162365]
Fernandez-Gonzalez A; La Spada AR; Treadaway J; Higdon JC; Harris BS; Sidman RL; Morgan JI; Zuo J. 2002. Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science 295(5561):1904-6. [PubMed: 11884758] [MGI Ref ID J:74929]
Ford GD; Ford BD; Steele EC Jr; Gates A; Hood D; Matthews MA; Mirza S; Macleish PR. 2008. Analysis of transcriptional profiles and functional clustering of global cerebellar gene expression in PCD3J mice. Biochem Biophys Res Commun 377(2):556-61. [PubMed: 18930027] [MGI Ref ID J:143574]
Kalinina E; Biswas R; Berezniuk I; Hermoso A; Aviles FX; Fricker LD. 2007. A novel subfamily of mouse cytosolic carboxypeptidases. FASEB J 21(3):836-50. [PubMed: 17244818] [MGI Ref ID J:168198]
Kim N; Xiao R; Choi H; Jo H; Kim JH; Uhm SJ; Park C. 2011. Abnormal sperm development in pcd(3J)-/- mice: the importance of Agtpbp1 in spermatogenesis. Mol Cells 31(1):39-48. [PubMed: 21110128] [MGI Ref ID J:188766]
Li J; Gu X; Ma Y; Calicchio ML; Kong D; Teng YD; Yu L; Crain AM; Vartanian TK; Pasqualini R; Arap W; Libermann TA; Snyder EY; Sidman RL. 2010. Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-kappaB signaling. Neuron 68(1):45-60. [PubMed: 20920790] [MGI Ref ID J:167756]
Rogowski K; van Dijk J; Magiera MM; Bosc C; Deloulme JC; Bosson A; Peris L; Gold ND; Lacroix B; Grau MB; Bec N; Larroque C; Desagher S; Holzer M; Andrieux A; Moutin MJ; Janke C. 2010. A family of protein-deglutamylating enzymes associated with neurodegeneration. Cell 143(4):564-78. [PubMed: 21074048] [MGI Ref ID J:166837]
Rong Y; Wang T; Morgan JI. 2004. Identification of candidate Purkinje cell-specific markers by gene expression profiling in wild-type and pcd(3J) mice. Brain Res Mol Brain Res 132(2):128-45. [PubMed: 15582153] [MGI Ref ID J:94657]
Wang T; Morgan JI. 2007. The Purkinje cell degeneration (pcd) mouse: an unexpected molecular link between neuronal degeneration and regeneration. Brain Res 1140:26-40. [PubMed: 16942761] [MGI Ref ID J:120628]
Wang T; Parris J; Li L; Morgan JI. 2006. The carboxypeptidase-like substrate-binding site in Nna1 is essential for the rescue of the Purkinje cell degeneration (pcd) phenotype. Mol Cell Neurosci 33(2):200-13. [PubMed: 16952463] [MGI Ref ID J:116593]
Wu HY; Wang T; Li L; Correia K; Morgan JI. 2012. A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice. FASEB J 26(11):4468-80. [PubMed: 22835831] [MGI Ref ID J:192499]
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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