Phenotypes Associated with This Genotype

Genotype
MGI:8404601

• Allelic Composition: Vps35l^em3Shis/Vps35l^em3Shis; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

premature death ( J:379431 )

• mice exhibit high mortality rates, starting after P14 and complete lethality by P42

postnatal lethality, incomplete penetrance ( J:379431 )

• mice exhibit high mortality rates, starting after P14 and complete lethality by P42

growth/size/body

postnatal growth retardation ( J:379431 )

• mice exhibit growth impairment, showing normal body weight at P0 but reduced weight at P7 and P14, regardless of hydrocephaly

behavior/neurological

abnormal behavior ( J:379431 )

• mice exhibit behavioral problems, including showing shaking

nervous system

hydrocephaly ( J:379431 )

• almost 30% of mice show hydrocephalus

• however, thickness of the brain cortex and the migration and number of neurons are not affected in the brains of mice lacking profound hydrocephaly

renal/urinary system

renal/urinary system phenotype ( J:379431 )

N • no structural abnormalities are seen in the kidneys

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ritscher-Schinzel syndrome		DOID:0060565	OMIM:PS220210	J:379431