Phenotypes Associated with This Genotype

Genotype
MGI:2175766

• Allelic Composition: Cdkn1c^tm1Kat/Cdkn1c^tm1Kat
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:61190 )

• slight lethality before birth

neonatal lethality, incomplete penetrance ( J:61190 )

• most homozygotes die within 24 hours of birth

postnatal lethality, incomplete penetrance ( J:61190 )

• 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

absent gastric milk in neonates ( J:61190 )

dysphagia ( J:61190 )

• suggested by empty stomachs

respiratory system

respiratory distress ( J:61190 )

• severe

homeostasis/metabolism

cyanosis ( J:61190 )

• severe

craniofacial

cleft secondary palate ( J:61190 )

• observed in those mice that die early

digestive/alimentary system

dysphagia ( J:61190 )

• suggested by empty stomachs

cleft secondary palate ( J:61190 )

• observed in those mice that die early

abnormal intestine morphology ( J:61190 )

• inflated abdomen due to air bubbles in the gastrointestinal tract

• markedly shortened intestine with coagulated blood

meteorism ( J:61190 )

• inflated abdomen with massive air bubbles in the gastrointestinal tract

skeleton

abnormal humerus morphology ( J:61190 )

• ossified parts of the humerus are shorter than normal

abnormal endochondral bone ossification ( J:61190 )

• defective endochondral bone ossification

abnormal intramembranous bone ossification ( J:61190 )

• ossification of membranous bone in the cranium partially impaired

growth/size/body

cleft secondary palate ( J:61190 )

• observed in those mice that die early

meteorism ( J:61190 )

• inflated abdomen with massive air bubbles in the gastrointestinal tract

decreased body size ( J:61190 )

• much smaller body size

decreased body weight ( J:61190 )

• 1/4 to 1/2 normal body weight

reproductive system

abnormal female reproductive system morphology ( J:61190 )

♀

increased atretic ovarian follicle number ( J:61190 )

♀ • increased numbers of atretic follicles

abnormal uterus development ( J:61190 )

♀ • immature at 5 weeks of age

hydrometra ( J:61190 )

♀ • fluid in uterus at 5 months of age

vagina atresia ( J:61190 )

♀ • vaginal atresia at 5 months of age

abnormal male reproductive system morphology ( J:61190 )

♂ • delayed maturation

abnormal prostate gland development ( J:61190 )

♂ • immature at 5 weeks of age

abnormal seminal vesicle development ( J:61190 )

♂ • immature at 5 weeks of age

abnormal testis development ( J:61190 )

♂ • immature at 5 weeks of age

delayed sexual maturation ( J:61190 )

♂ • delayed sexual maturation in males

abnormal fertility/fecundity ( J:61190 )

female infertility ( J:61190 )

♀ • sterile

embryo

abnormal trophoblast giant cell morphology ( J:102331 )

• reduced invasion of giant cells

abnormal spongiotrophoblast layer morphology ( J:102331 , J:102344 )

• increased proliferation of spongiotrophoblasts (J:102344)

abnormal placenta labyrinth morphology ( J:102331 , J:102344 )

• increased proliferation of labyrinthine trophoblasts (J:102344)

• reduced labyrinthine space (J:102344)

enlarged placenta ( J:102344 )

• placentomegaly

increased placenta weight ( J:102331 )

• 140mg at E17.5 compared to 110mg for controls

immune system

abnormal spleen white pulp morphology ( J:61190 )

• underdeveloped

endocrine/exocrine glands

abnormal gland morphology ( J:61190 )

abnormal prostate gland development ( J:61190 )

♂ • immature at 5 weeks of age

abnormal seminal vesicle development ( J:61190 )

♂ • immature at 5 weeks of age

increased atretic ovarian follicle number ( J:61190 )

♀ • increased numbers of atretic follicles

abnormal testis development ( J:61190 )

♂ • immature at 5 weeks of age

limbs/digits/tail

abnormal humerus morphology ( J:61190 )

• ossified parts of the humerus are shorter than normal

hematopoietic system

abnormal spleen white pulp morphology ( J:61190 )

• underdeveloped

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