Phenotypes Associated with This Genotype

Genotype
MGI:3847290

• Allelic Composition: Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg}
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

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

Pds5a^{Gt(RRM243)Byg}/Pds5a^{Gt(RRM243)Byg} mice display growth retardation, abnormal skeletal patterning and cleft pallet

mortality/aging

neonatal lethality, complete penetrance ( J:148890 )

• mice die within 24 hours of birth

skeleton

abnormal sternum morphology ( J:148890 )

• in 5 of 10 mice

abnormal sternocostal joint morphology ( J:148890 )

• mice exhibit ectopic rib-sternum conjunctions

abnormal rib morphology ( J:148890 )

• all mice exhibit cervical ribs due to a fusion of C7 and T1 or a transformation of C7 to T1 unlike in wild-type mice

abnormal vertebrae morphology ( J:148890 )

• 17 of 26 mice exhibit abnormal patterns of vertebral ossification compared with wild-type mice

abnormal cervical atlas morphology ( J:148890 )

• the ossification centers in C1 remain unfused unlike in wild-type mice

cervical vertebral fusion ( J:148890 )

• fusion of C7 and T1 in some mice

cervical vertebral transformation ( J:148890 )

• transformation of C7 to T1 in some mice

cardiovascular system

double outlet right ventricle ( J:148890 )

• in 1 of 25 mice

atrial septal defect ( J:148890 )

• in 1 of 25 mice

atrioventricular septal defect ( J:148890 )

• 5 of 25 mice exhibit atrioventricular canal defects

perimembraneous ventricular septal defect ( J:148890 )

• in 10 of 25 mice

renal/urinary system

decreased renal glomerulus number ( J:148890 )

renal hypoplasia ( J:148890 )

absent kidney ( J:148890 )

• 8 of 61 mice exhibit unilateral or bilateral kidney agenesis unlike wild-type mice

single kidney ( J:148890 )

• 8 of 61 mice exhibit unilateral or bilateral kidney agenesis unlike wild-type mice

nervous system

nervous system phenotype ( J:148890 )

N • unlike in Pds5b null mice, sympathetic neuronal projections are normal

abnormal enteric nervous system morphology ( J:148890 )

• at E12.5, enteric nervous system precursors fail to migrate much beyond the ileocecal junction unlike in wild-type mice

growth/size/body

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

decreased birth body size ( J:148890 )

decreased birth weight ( J:148890 )

craniofacial

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

digestive/alimentary system

palatal shelves fail to meet at midline ( J:148890 )

cleft secondary palate ( J:148890 )

• in 20 of 61 mice

respiratory system

respiratory distress ( J:148890 )

• at birth

reproductive system

reproductive system phenotype ( J:148890 )

N • unlike in Pds5b null mice, germ cell differentiation is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cornelia de Lange syndrome		DOID:11725	OMIM:PS122470	J:148890