Phenotypes Associated with This Genotype

Genotype
MGI:2175768

• Allelic Composition: Cdkn1c^tm1Sje/Cdkn1c^tm1Sje
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:40203 )

• no homozygotes survive to 2 weeks of age

lethality throughout fetal growth and development, incomplete penetrance ( J:40203 )

• about 10% die between E13 and E16

growth/size/body

palatal shelves fail to meet at midline ( J:40203 )

• failure of the palate to fuse is observed at E20

meteorism ( J:40203 )

• air found in the stomach and intestines causing inflation

herniated abdominal wall ( J:40203 )

omphalocele ( J:40203 )

• small intestine sometimes outside of the body wall

decreased fetal size ( J:40203 )

• E18 mutants 10% shorter than control although skeletal length is normal

digestive/alimentary system

palatal shelves fail to meet at midline ( J:40203 )

• failure of the palate to fuse is observed at E20

abnormal ileum morphology ( J:40203 )

• found in front of the liver at E18.5

abnormal jejunum morphology ( J:40203 )

• found in front of the liver at E18.5

meteorism ( J:40203 )

• air found in the stomach and intestines causing inflation

muscle

abnormal skeletal muscle morphology ( J:40203 )

• abnormal musculature of the body wall, failing to approach the mid ventral line at the level of the umbilicus

respiratory system

respiratory distress ( J:40203 )

• difficulty breathing in all neonates

• milk found in the lungs

craniofacial

palatal shelves fail to meet at midline ( J:40203 )

• failure of the palate to fuse is observed at E20

renal/urinary system

renal/urinary system phenotype ( J:104004 )

N • glomeruli are normal at all stages of maturation

abnormal kidney medulla development ( J:40203 )

• abnormal development at E16.5 and later

small inner medullary pyramid ( J:40203 )

• fewer than normal renal tubules (loops of Henle and collecting ducts)

skeleton

abnormal long bone morphology ( J:40203 )

• limb bones are shorter and thicker

abnormal long bone epiphysis morphology ( J:40203 )

• columnar alignment of chondrocytes somewhat disorganized

• thinner hypertrophic zone

• higher rate of cell division in resting and proliferative chondrocytes at E15

decreased length of long bones ( J:40203 )

increased diameter of long bones ( J:40203 )

split sternum ( J:40203 )

• delayed fusion and ossification

vision/eye

increased lens epithelium apoptosis ( J:40203 )

• 10 fold increase of apoptosis in the anterior epithelial compartment

lens vacuoles ( J:40203 )

• lens vacuolation by E15.5

cellular

increased lens epithelium apoptosis ( J:40203 )

• 10 fold increase of apoptosis in the anterior epithelial compartment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Beckwith-Wiedemann syndrome		DOID:5572	OMIM:130650	J:40203