Phenotypes Associated with This Genotype

Genotype
MGI:6286056

• Allelic Composition: Dis3l2^em1Jtm/Dis3l2^em1Jtm
• Genetic Background: C57BL/6J-Dis3l2^em1Jtm

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

mortality/aging

perinatal lethality, complete penetrance ( J:272435 )

• fully penetrant perinatal lethality, with no mice surviving the first postnatal day

behavior/neurological

bradykinesia ( J:272435 )

renal/urinary system

abnormal renal/urinary system morphology ( J:272435 )

• mice exhibit highly penetrant genitourinary abnormalities, including hydroureter, hydronephrosis, and prematurely filled bladders

• however, kidney development appears overtly normal at E18.5 and no neoplasms or Wilms tumor are seen

hydronephrosis ( J:272435 )

• 91% penetrance at E18.5

hydroureter ( J:272435 )

• 70% penetrance at E18.5

distended urinary bladder ( J:272435 )

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

respiratory system

respiratory failure ( J:272435 )

• caesarean delivered pups at E18.5 fail to initiate respiration, resulting in underinflated lungs and rapid death

skeleton

abnormal spine curvature ( J:272435 )

• abnormal curvature of the lumbar spine

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