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Phenotypes Associated with This Genotype
Genotype
MGI:2175766
Allelic
Composition
Cdkn1ctm1Kat/Cdkn1ctm1Kat
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1ctm1Kat mutation (1 available); any Cdkn1c mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die within 24 hours of birth
• most mutant mice exhibit early postnatal lethality
• about 10% of homozygotes survive beyond weaning; these do not exhibit cleft palate nor intestinal abnormalities

behavior/neurological
• suggested by empty stomachs

respiratory system

homeostasis/metabolism
• severe

craniofacial
• observed in those mice that die early

digestive/alimentary system
• suggested by empty stomachs
• observed in those mice that die early
• inflated abdomen due to air bubbles in the gastrointestinal tract
• markedly shortened intestine with coagulated blood
• inflated abdomen with massive air bubbles in the gastrointestinal tract

skeleton
• ossified parts of the humerus are shorter than normal
• defective endochondral bone ossification
• ossification of membranous bone in the cranium partially impaired

growth/size/body
• observed in those mice that die early
• inflated abdomen with massive air bubbles in the gastrointestinal tract
• much smaller body size
• 1/4 to 1/2 normal body weight

reproductive system
• increased numbers of atretic follicles
• immature at 5 weeks of age
• fluid in uterus at 5 months of age
• vaginal atresia at 5 months of age
• immature at 5 weeks of age
• immature at 5 weeks of age
• immature at 5 weeks of age
• delayed sexual maturation in males
• sterile

embryo
• reduced invasion of giant cells
• increased proliferation of spongiotrophoblasts (J:102344)
• increased proliferation of labyrinthine trophoblasts (J:102344)
• reduced labyrinthine space (J:102344)
• placentomegaly
• 140mg at E17.5 compared to 110mg for controls

immune system

endocrine/exocrine glands
• immature at 5 weeks of age
• immature at 5 weeks of age
• increased numbers of atretic follicles
• immature at 5 weeks of age

limbs/digits/tail
• ossified parts of the humerus are shorter than normal

hematopoietic system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Beckwith-Wiedemann syndrome DOID:5572 OMIM:130650
J:61190


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory