Phenotypes Associated with This Genotype

Genotype
MGI:3713335

• Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led; Cdkn1c^tm1Sje/Cdkn1c⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:52552 )

• no live births when Cdkn1c^tm1Sje is maternally inherited

lethality throughout fetal growth and development, incomplete penetrance ( J:52552 )

• normal numbers at E16.5

• 65% die before birth

postnatal lethality ( J:52552 )

growth/size/body

cleft palate ( J:52552 )

herniated abdominal wall ( J:52552 )

omphalocele ( J:52552 )

decreased fetal size ( J:52552 )

digestive/alimentary system

cleft palate ( J:52552 )

abnormal ileum morphology ( J:52552 )

abnormal jejunum morphology ( J:52552 )

muscle

increased skeletal muscle fiber size ( J:52552 )

• fewer and shorter myotubes in the hind limb

• nuclei in myotubes larger and abnormal in shape

• increased apoptosis

thin diaphragm muscle ( J:52552 )

• severely reduced in size

• thinner

decreased skeletal muscle mass ( J:52552 )

• reduced intercostals muscles

• reduced head muscles

• body wall musculature severely reduced

respiratory system

abnormal pulmonary alveolus morphology ( J:52552 )

• distal air sacs fail to differentiate

• primitive alveoli do not develop

abnormal bronchiole morphology ( J:52552 )

• luminal space is reduced

abnormal bronchus morphology ( J:52552 )

• luminal space is reduced

respiratory distress ( J:52552 )

craniofacial

cleft palate ( J:52552 )

renal/urinary system

abnormal kidney medulla development ( J:52552 )

small inner medullary pyramid ( J:52552 )

skeleton

abnormal limb bone morphology ( J:52552 )

abnormal long bone epiphysis morphology ( J:52552 )

abnormal axial skeleton morphology ( J:52552 )

abnormal sternum morphology ( J:52552 )

abnormal sternocostal joint morphology ( J:52552 )

• ribs join the sternum at a wider than normal angle (90^o)

short sternum ( J:52552 )

split sternum ( J:52552 )

abnormal rib morphology ( J:52552 )

rib bifurcation ( J:52552 )

• 9th rib usually

• sometimes also the 7th rib

abnormal spine curvature ( J:52552 )

vision/eye

abnormal lens development ( J:52552 )

abnormal lens epithelium morphology ( J:52552 )

limbs/digits/tail

abnormal limb bone morphology ( J:52552 )