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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
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6 Donor Strain 129S7 via AB1 ES cell line (+Hprt-bm2) Donating Investigator Stephen Elledge, Baylor College of Medicine Description
Mice lacking the Cdkn1c gene have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochrondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; lens cell hyperproliferation and apoptosis. The targeted gene is imprinted. The phenotype differs depending on whether the targeted allele is transmitted from the dam or the sire; maternal inheritance of the null allele is lethal. This is a model for the human Beckwith-Wiedemann syndrome.Development
A targeting construct that removed exons 1 and 2 (87% of the p57KIP2 coding region) was introduced into AB2.1 embryonic stem cells. Homologous recombinant cells were injected into C57BL/6 blastocysts. Male chimeras were mated to C57BL/6 females. The disrupted allele is a null.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
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Phenotype
Phenotype Information
Beckwith-Wiedemann Syndrome; BWS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Cdkn1ctm1Sje/Cdkn1c+
involves: 129S7/SvEvBrd * C57BL/6
- mortality/aging
- partial lethality throughout fetal growth and development
- partial postnatal lethality
- half expected numbers survive to 2 weeks of age (MGI Ref ID J:40203)
- significant improvement in survival beyond day 1 of heterozygotes inheriting a maternal mutant when on an outbred CD1 background significant improvement in survival beyond day 1 of heterozygotes inheriting a maternal mutant when on an outbred CD1 backgound (MGI Ref ID J:40203)
- endocrine/exocrine gland phenotype
- enlarged adrenal glands
- significantly enlarged and displaying cytomegaly (MGI Ref ID J:40203)
- cellular phenotype
- paternal imprinting
Cdkn1ctm1Sje/Cdkn1c+
involves: 129 * C57BL/6
- mortality/aging
- complete postnatal lethality
- mice that maternally inherit the mutant allele do not survive to adulthood (MGI Ref ID J:108700)
Cdkn1ctm1Sje/Cdkn1ctm1Sje
involves: 129S7/SvEvBrd * C57BL/6
- mortality/aging
- complete postnatal lethality
- no homozygotes survive to 2 weeks of age (MGI Ref ID J:40203)
- partial lethality throughout fetal growth and development
- about 10% die between E13 and E16 (MGI Ref ID J:40203)
- growth/size phenotype
- decreased fetal size
- E18 mutants 10% shorter than control although skeletal length is normal (MGI Ref ID J:40203)
- herniated abdominal wall (MGI Ref ID J:40203)
- meteorism
- air found in the stomach and intestines causing inflation (MGI Ref ID J:40203)
- omphalocele
- small intestine sometimes outside of the body wall (MGI Ref ID J:40203)
- digestive/alimentary phenotype
- abnormal ileum morphology
- found in front of the liver at E18.5 (MGI Ref ID J:40203)
- abnormal jejunum morphology
- found in front of the liver at E18.5 (MGI Ref ID J:40203)
- meteorism
- air found in the stomach and intestines causing inflation (MGI Ref ID J:40203)
- palatal shelves fail to meet at midline
- failure of the palate to fuse is observed at E20 (MGI Ref ID J:40203)
- muscle phenotype
- abnormal skeletal muscle morphology
- abnormal musculature of the body wall, failing to approach the mid ventral line at the level of the umbilicus (MGI Ref ID J:40203)
- respiratory system phenotype
- respiratory distress
- craniofacial phenotype
- palatal shelves fail to meet at midline
- failure of the palate to fuse is observed at E20 (MGI Ref ID J:40203)
- renal/urinary system phenotype
- *normal* renal/urinary system phenotype
- glomeruli are normal at all stages of maturation (MGI Ref ID J:104004)
- skeleton phenotype
- abnormal long bone morphology
- limb bones are shorter and thicker (MGI Ref ID J:40203)
- split sternum
- delayed fusion and ossification (MGI Ref ID J:40203)
- vision/eye phenotype
- abnormal lens development
- lens vacuolation by E15.5 (MGI Ref ID J:40203)
- increased lens epithelium apoptosis
- 10 fold increase of apoptosis in the anterior epithelial compartment (MGI Ref ID J:40203)
- limbs/digits/tail phenotype
- abnormal long bone morphology
- limb bones are shorter and thicker (MGI Ref ID J:40203)
- cellular phenotype
- increased lens epithelium apoptosis
- 10 fold increase of apoptosis in the anterior epithelial compartment (MGI Ref ID J:40203)
Cdkn1ctm1Sje/Cdkn1ctm1Sje
either: (involves: 129S7/SvEvBrd * C57BL/6) or (involves: 129S7/SvEvBrd * ICR)This mouse can be used to support research in many areas including:Cdkn1ctm1Sje related
Cancer Research
Genes Regulating Growth and Proliferation
Cell Biology Research
Genes Regulating Growth and Proliferation
Developmental Biology Research
Eye Defects
Growth Defects
Internal/Organ Defects
adrenal cortex
kidney
Skeletal Defects
Internal/Organ Research
Adrenal Cortex Defects
Kidney Defects
Sensorineural Research
Eye Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Cdkn1ctm1Sje | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, SJ Elledge | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Cdkn1c-; p57+/-m; p57-; p57KIP2; | ||
| Mutation Made By | Pumin Zhang, Baylor College of Medicine | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt | ||
| ES Cell Line Name | AB2.1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt | ||
| Gene Symbol and Name | Cdkn1c, cyclin-dependent kinase inhibitor 1C (P57) | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | AL024410; BWCR; BWS; CDKI; KIP2; WBS; expressed sequence AL024410; p57; p57KIP2; | ||
| Molecular Note | Replacement of exons 1 and 2 (87% of the Cdkn1c coding region) with a neomycin cassette. [MGI Ref ID J:40203] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Cdkn1ctm1Sje, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Zhang P; Liegeois NJ; Wong C; Finegold M; Hou H; Thompson JC ; Silverman A ; Harper JW ; DePinho RA ; Elledge SJ. 1997. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 387(6629):151-8. [PubMed: 9144284] [MGI Ref ID J:40203]
Additional References
Cdkn1ctm1Sje relatedAndrews SC; Wood MD; Tunster SJ; Barton SC; Surani MA; John RM. 2007. Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7. BMC Dev Biol 7:53. [PubMed: 17517131] [MGI Ref ID J:126494]
Bilodeau S; Roussel-Gervais A; Drouin J. 2009. Distinct developmental roles of cell cycle inhibitors p57Kip2 and p27Kip1 distinguish pituitary progenitor cell cycle exit from cell cycle reentry of differentiated cells. Mol Cell Biol 29(7):1895-908. [PubMed: 19139274] [MGI Ref ID J:147778]
Caspary T; Cleary MA; Perlman EJ; Zhang P; Elledge SJ; Tilghman SM. 1999. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev 13(23):3115-24. [PubMed: 10601037] [MGI Ref ID J:58998]
Dyer MA; Cepko CL. 2000. p57(Kip2) regulates progenitor cell proliferation and amacrine interneuron development in the mouse retina. Development 127(16):3593-605. [PubMed: 10903183] [MGI Ref ID J:63217]
Georgia S; Soliz R; Li M; Zhang P; Bhushan A. 2006. p57 and Hes1 coordinate cell cycle exit with self-renewal of pancreatic progenitors. Dev Biol 298(1):22-31. [PubMed: 16899237] [MGI Ref ID J:119274]
Gui H; Li S; Matise MP. 2007. A cell-autonomous requirement for Cip/Kip cyclin-kinase inhibitors in regulating neuronal cell cycle exit but not differentiation in the developing spinal cord. Dev Biol 301(1):14-26. [PubMed: 17123502] [MGI Ref ID J:117093]
Hagan JP; Kozlov SV; Chiang Y; Sewell L; Stewart CL. 2004. Intraspecific mating with CzechII/Ei mice rescue lethality associated with loss of function mutations of the imprinted genes, Igf2r and Cdkn1c. Genomics 84(5):836-43. [PubMed: 15475262] [MGI Ref ID J:118454]
Han L; Szabo PE; Mann JR. 2010. Postnatal survival of mice with maternal duplication of distal chromosome 7 induced by a Igf2/H19 imprinting control region lacking insulator function. PLoS Genet 6(1):e1000803. [PubMed: 20062522] [MGI Ref ID J:156755]
Hillhouse AE; Myles MH; Taylor JF; Bryda EC; Franklin CL. 2011. Quantitative trait loci in a bacterially induced model of inflammatory bowel disease. Mamm Genome 22(9-10):544-55. [PubMed: 21717222] [MGI Ref ID J:177543]
Hiromura K; Haseley LA; Zhang P; Monkawa T; Durvasula R; Petermann AT; Alpers CE; Mundel P; Shankland SJ. 2001. Podocyte expression of the CDK-inhibitor p57 during development and disease. Kidney Int 60(6):2235-46. [PubMed: 11737597] [MGI Ref ID J:104004]
Jin RJ; Lho Y; Wang Y; Ao M; Revelo MP; Hayward SW; Wills ML; Logan SK; Zhang P; Matusik RJ. 2008. Down-regulation of p57Kip2 induces prostate cancer in the mouse. Cancer Res 68(10):3601-8. [PubMed: 18483241] [MGI Ref ID J:135026]
MacLean HE; Guo J; Knight MC; Zhang P; Cobrinik D; Kronenberg HM. 2004. The cyclin-dependent kinase inhibitor p57(Kip2) mediates proliferative actions of PTHrP in chondrocytes. J Clin Invest 113(9):1334-43. [PubMed: 15124025] [MGI Ref ID J:89721]
Mager J; Montgomery ND; de Villena FP; Magnuson T. 2003. Genome imprinting regulated by the mouse Polycomb group protein Eed. Nat Genet 33(4):502-7. [PubMed: 12627233] [MGI Ref ID J:82790]
Mancini-Dinardo D; Steele SJ; Levorse JM; Ingram RS; Tilghman SM. 2006. Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes. Genes Dev 20(10):1268-82. [PubMed: 16702402] [MGI Ref ID J:108700]
Mascarenhas MI; Parker A; Dzierzak E; Ottersbach K. 2009. Identification of novel regulators of hematopoietic stem cell development through refinement of stem cell localization and expression profiling. Blood 114(21):4645-53. [PubMed: 19794138] [MGI Ref ID J:154998]
Rentsendorj A; Mohan S; Szabo P; Mann JR. 2010. A genomic imprinting defect in mice traced to a single gene. Genetics 186(3):917-27. [PubMed: 20713691] [MGI Ref ID J:165729]
Vlachos P; Nyman U; Hajji N; Joseph B. 2007. The cell cycle inhibitor p57(Kip2) promotes cell death via the mitochondrial apoptotic pathway. Cell Death Differ 14(8):1497-507. [PubMed: 17464323] [MGI Ref ID J:139269]
Zhang P; Wong C; DePinho RA; Harper JW; Elledge SJ. 1998. Cooperation between the Cdk inhibitors p27(KIP1) and p57(KIP2) in the control of tissue growth and development. Genes Dev 12(20):3162-7. [PubMed: 9784491] [MGI Ref ID J:50769]
Zhang PM; Wong C; Liu D; Finegold M; Harper JW; Elledge SJ. 1999. p21(CIP1) and p57(KIP2) control muscle differentiation at the myogenin step. Genes Dev 13(2):213-224. [PubMed: 9925645] [MGI Ref ID J:52552]
Zou P; Yoshihara H; Hosokawa K; Tai I; Shinmyozu K; Tsukahara F; Maru Y; Nakayama K; Nakayama KI; Suda T. 2011. p57(Kip2) and p27(Kip1) Cooperate to Maintain Hematopoietic Stem Cell Quiescence through Interactions with Hsc70. Cell Stem Cell 9(3):247-61. [PubMed: 21885020] [MGI Ref ID J:176210]
Health & husbandry
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.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.Colony Maintenance
Breeding & Husbandry The strain originated on a 129/Sv background and is currently at N9 on a C57BL/6 background. The donating investigator maintains the strain by mating heterozygous males to C57BL/6 females. The protein Cdkn1c is encoded by a maternally expressed, imprinted gene in both mice and humans. Maternal inheritance of the null allele is lethal. Expected coat color from breeding:Black Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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 for further information.
Supply Notes
- Cryorecovery - Standard.
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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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 |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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 for further information.
Supply Notes
- Cryorecovery - Standard.
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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
General Supply Notes
- This strain is included in the Induced Mutant Resource Colony collection.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| 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 Information
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For Licensing and Use Restrictions view the link(s) below:
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