B6;129-Cdkn1c^tm1Bbd/Cnbc

Status	Available to order
EMMA ID	EM:08025
International strain name	B6;129-Cdkn1c^tm1Bbd/Cnbc
Alternative name	Cdkn1c or p57Kip2_KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Cdkn1c^tm1Bbd,
Gene/Transgene symbol	Cdkn1c

Information from provider

Provider	Mariano Barbacid
Provider affiliation	Molecular Oncology, Centro Nacional de Investigaciones Oncologicas
Genetic information	Deletion of 1.1 kb of genomic sequence that includes the Cdkn1c first exon and part of the second exon, encoding amino acid residues 1-181 of the protein. No protein was detected in Western blots of lysates of primary embryo fibroblasts derived from homozygous mutant mice.
Phenotypic information	Homozygous: Most Cdkn1c (Kip2 or p57) null mice die after birth and display severe developmental defects with varying degrees of penetrance. Heterozygous mice that inherit a maternal, but not a paternal, targeted allele exhibit similar deficiencies and neonatal death. Developmental defects of Cdkn1c mutant mice include cleft palate and gastrointestinal abnormalities. Most Cdkn1c mutant mice have short limbs, a defect attributable to abnormal endochondral ossification caused by delayed cell cycle exit during chondrocyte differentiation. Heterozygous: Heterozygous mice that inherit a maternal, but not a paternal, targeted allele exhibit similar deficiencies and neonatal death.
Breeding history	Mutation introduced in R1 ES cells. Chimeras were bred with C57BL/6J females. Heterozygous mice were bred among themselves to generate homozygous mice or to C57BL/6J animals to propagate the targeted allele. Maintained currently in mixed background: 129S1/Sv,129X1/SvJ and C57BL/6 (at least 80%).
References	Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.;Yan Y, Frisén J, Lee M H, Massagué J, Barbacid M, ;1997;Genes & development;11;973-83; 9136926 p57(Kip2) cooperates with Nurr1 in developing dopamine cells.;Joseph Bertrand, Wallén-Mackenzie Asa, Benoit Gérard, Murata Takashi, Joodmardi Eliza, Okret Sam, Perlmann Thomas, ;2003;Proceedings of the National Academy of Sciences of the United States of America;100;15619-24; 14671317 Identification and characterisation of imprinted genes in the mouse.;Peters Jo, Beechey Colin, ;2004;Briefings in functional genomics & proteomics;2;320-33; 15163367
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archiving	heterozygous 0, wild-type mixed 129/SvJ, C57BL/6
Stage of embryos	4/8-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Beckwith-Wiedemann syndrome due to CDKN1C mutation / Orphanet_231120
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome / Orphanet_436144
Silver-Russell syndrome due to a point mutation / Orphanet_397590
IMAGe syndrome / Orphanet_85173

MGI phenotypes (allele matching)

cleft palate / MGI
abnormal intestine morphology / MGI
short limbs / MGI
abnormal suckling behavior / MGI
paternal imprinting / MGI
absent gastric milk in neonates / MGI
neonatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
abnormal long bone epiphysis morphology / MGI
absent jejunum / MGI
abnormal midbrain morphology / MGI
abnormal ileum morphology / MGI
abnormal digestive system development / MGI
abnormal soft palate morphology / MGI
abnormal duodenum morphology / MGI
delayed endochondral bone ossification / MGI
abnormal hard palate morphology / MGI
abnormal bone ossification / MGI
meteorism / MGI
palatal shelves fail to meet at midline / MGI
increased midbrain apoptosis / MGI
abnormal digestive system morphology / MGI
abnormal skeleton development / MGI
abnormal limb bone morphology / MGI
abnormal craniofacial bone morphology / MGI

Literature references

Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.;Yan Y, Frisén J, Lee M H, Massagué J, Barbacid M, ;1997;Genes & development;11;973-83; 9136926
p57(Kip2) cooperates with Nurr1 in developing dopamine cells.;Joseph Bertrand, Wallén-Mackenzie Asa, Benoit Gérard, Murata Takashi, Joodmardi Eliza, Okret Sam, Perlmann Thomas, ;2003;Proceedings of the National Academy of Sciences of the United States of America;100;15619-24; 14671317
Identification and characterisation of imprinted genes in the mouse.;Peters Jo, Beechey Colin, ;2004;Briefings in functional genomics & proteomics;2;320-33; 15163367

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6;129-Cdkn1ctm1Bbd/Cnbc