Phenotypes Associated with This Genotype

Genotype
MGI:6286061

• Allelic Composition: Dis3l2^em3Jtm/Dis3l2^em3Jtm
• Genetic Background: C57BL/6J-Dis3l2^em3Jtm

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

mortality/aging

perinatal lethality, complete penetrance ( J:272435 )

• fully penetrant perinatal lethality

behavior/neurological

bradykinesia ( J:272435 )

renal/urinary system

abnormal renal/urinary system morphology ( J:272435 )

• mice exhibit genitourinary abnormalities including hydroureter and prematurely filled bladders at E18.5

• however, no kidney neoplasms or Wilms tumor are observed

hydronephrosis ( J:272435 )

• 45% penetrance at E18.5

hydroureter ( J:272435 )

• 82% penetrance at E18.5

distended urinary bladder ( J:272435 )

• 100% penetrance of prematurely filled bladders at E18.5

respiratory system

respiratory failure ( J:272435 )

• lung hypoinflation in caesarean delivered pups at E18.5

skeleton

abnormal spine curvature ( J:272435 )

growth/size/body

growth/size/body region phenotype ( J:272435 )

N • overgrowth of E18.5 mice is not seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Perlman syndrome		DOID:0060476	OMIM:267000	J:272435