Phenotypes associated with this allele

• Allele Symbol: Msi1^tm1Okn
• Allele Name: targeted mutation 1, Hideyuki Okano
• Allele ID: MGI:2450917
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Msi1^tm1Okn/Msi1^tm1Okn	involves: C57BL/6	MGI:2450926
hm2	Msi1^tm1Okn/Msi1^tm1Okn	involves: C57BL/6 * ICR	MGI:6384268

Genotype
MGI:2450926

hm1

• Allelic Composition: Msi1^tm1Okn/Msi1^tm1Okn
• Genetic Background: involves: C57BL/6

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

Development of hydrocephalus in postnatal Msi1^tm1Okn/Msi1^tm1Okn mice

mortality/aging

premature death ( J:81794 )

• animals with severe hydroencephaly diplayed death at 1-2 months of age

behavior/neurological

ataxia ( J:81794 )

• animals with severe hydroencephaly diplayed axtaxic gait

cardiovascular system

intracerebral hemorrhage ( J:81794 )

craniofacial

abnormal neurocranium morphology ( J:81794 )

• enlarged, domed cranium

homeostasis/metabolism

dehydration ( J:81794 )

• animals with severe hydroencephaly diplayed dehydration

edema ( J:81794 )

skeleton

abnormal neurocranium morphology ( J:81794 )

• enlarged, domed cranium

nervous system

intracerebral hemorrhage ( J:81794 )

hydrocephaly ( J:81794 )

• by 1-2 weeks of age 70%-80% of animals develop hydroencephaly

dilated lateral ventricle ( J:81794 )

• progressive dilation of lateral ventricles

abnormal corpus callosum morphology ( J:81794 )

• Probst's bundle

abnormal cerebral cortex morphology ( J:81794 )

• thinning of cerebral cortices

abnormal ependyma morphology ( J:81794 )

• abnormal stratification of ependymal cells; abnormal proliferation of ependymal cells

Genotype
MGI:6384268

hm2

• Allelic Composition: Msi1^tm1Okn/Msi1^tm1Okn
• Genetic Background: involves: C57BL/6 * ICR

vision/eye

increased retina apoptosis ( J:146380 )

• increase in the number of apoptotic cells in the outer nuclear layer indicating death of photoreceptors

short photoreceptor outer segment ( J:146380 )

• outer segments of rods are shorter along most of the retina

abnormal retina rod cell outer segment morphology ( J:146380 )

• rhodopsin-labeled membrane is sometimes scattered in the subretinal space indicating that rod outer segments are fragmented

retina photoreceptor degeneration ( J:146380 )

abnormal retina pigment epithelium morphology ( J:146380 )

• the visual cycle protein RPE65 is absent in the microvilli of retinal photoreceptor epithelium cells

• however, the morphology of the retinal pigment epithelium is preserved

thin retina outer nuclear layer ( J:146380 )

• the outer nuclear layer is a few cells thinner at 8 weeks of age, being 8-10 cells thick compared to 11-12 cells thick in wild-type mice

• the outer nuclear layer in the peripheral retina is 4-7 cells thick compared to 6-7 cells thick in controls

• total cell number within the outer nuclear layer throughout the retina is less than in controls

• however, the total number of cells within the inner nuclear layer and the ganglion cell layer are normal

cellular

increased retina apoptosis ( J:146380 )

• increase in the number of apoptotic cells in the outer nuclear layer indicating death of photoreceptors

nervous system

short photoreceptor outer segment ( J:146380 )

• outer segments of rods are shorter along most of the retina

abnormal retina rod cell outer segment morphology ( J:146380 )

• rhodopsin-labeled membrane is sometimes scattered in the subretinal space indicating that rod outer segments are fragmented

retina photoreceptor degeneration ( J:146380 )

pigmentation

abnormal retina pigment epithelium morphology ( J:146380 )

• the visual cycle protein RPE65 is absent in the microvilli of retinal photoreceptor epithelium cells

• however, the morphology of the retinal pigment epithelium is preserved