Phenotypes associated with this allele

• Allele Symbol: Vps35l^em3Shis
• Allele Name: endonuclease-mediated mutation 3, Shinji Saitoh
• Allele ID: MGI:8316984
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Vps35l^em3Shis/Vps35l^em3Shis Tg(Prrx1-cre)1Cjt/0	involves: C57BL/6J * SJL/J	MGI:8404602
cn2	Vps35l^em3Shis/Vps35l^em3Shis Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:8404601

Genotype
MGI:8404602

cn1

• Allelic Composition: Vps35l^em3Shis/Vps35l^em3Shis; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: C57BL/6J * SJL/J

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

growth/size/body

decreased body size ( J:379431 )

• decreased body size at 8 weeks of age

decreased body weight ( J:379431 )

• mice exhibit reduced body weight at 8 weeks of age

decreased body height ( J:379431 )

• short stature

limbs/digits/tail

short tibia ( J:379431 )

• 12-week-old mice exhibit shorter tibia length

skeleton

short tibia ( J:379431 )

• 12-week-old mice exhibit shorter tibia length

Genotype
MGI:8404601

cn2

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

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