Phenotypes associated with this allele

• Allele Symbol: Arhgap35^tm1Jset
• Allele Name: targeted mutation 1, Jeffrey Settleman
• Allele ID: MGI:2448591
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Arhgap35^tm1Jset/Arhgap35^tm1Jset	involves: 129S2/SvPas	MGI:5790393
hm2	Arhgap35^tm1Jset/Arhgap35^tm1Jset	involves: 129S2/SvPas * C57BL/6J	MGI:3630400
ht3	Arhgap35^m1Bchd/Arhgap35^tm1Jset	involves: 129S2/SvPas * C3H/HeNCrl * C57BL/6J	MGI:5790397

Genotype
MGI:5790393

hm1

• Allelic Composition: Arhgap35^tm1Jset/Arhgap35^tm1Jset
• Genetic Background: involves: 129S2/SvPas

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

Hypoplastic and glomerulocystic kidneys in Arhgap35^tm1Jset/Arhgap35^tm1Jset mutants

mortality/aging

perinatal lethality, complete penetrance ( J:232342 )

• early perinatal lethality

renal/urinary system

abnormal kidney morphology ( J:232342 )

• 100% of E17.5 embryos display hypodysplastic kidneys

renal glomerulus cyst ( J:232342 )

• cystic glomeruli at E17.5

renal hypoplasia ( J:232342 )

• E17.5 kidneys exhibit hypoplasia or agenesis

single kidney ( J:232342 )

• E17.5 kidneys exhibit hypoplasia or agenesis

nervous system

abnormal neural tube closure ( J:232342 )

• 44% of E17.5 embryos display neural tube closure defects (exencephaly and spina bifida)

spina bifida ( J:232342 )

• at E17.5

exencephaly ( J:232342 )

• at E17.5

embryo

abnormal neural tube closure ( J:232342 )

• 44% of E17.5 embryos display neural tube closure defects (exencephaly and spina bifida)

spina bifida ( J:232342 )

• at E17.5

growth/size/body

renal glomerulus cyst ( J:232342 )

• cystic glomeruli at E17.5

Genotype
MGI:3630400

hm2

• Allelic Composition: Arhgap35^tm1Jset/Arhgap35^tm1Jset
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

mortality/aging

postnatal lethality, complete penetrance ( J:65296 )

• 95% of homozygotes die within 2 days of birth

• remaining homozygous mice all die within 3 weeks

vision/eye

retina pigment epithelium hyperplasia ( J:65296 )

abnormal optic fissure closure ( J:65296 )

coloboma ( J:65296 )

• a defect in closure of the optic fissure leads to coloboma

microphthalmia ( J:65296 )

• eyes smaller than normal

retina fold ( J:65296 )

• abnormal folding of the retina

nervous system

abnormal floor plate morphology ( J:65296 )

• reduced apical constriction of neuroepithelial cells in presumptive floor plate is sometimes seen

incomplete rostral neuropore closure ( J:65296 )

• 30% of E10.5 embryos have severe cranial neural tube closure defects; these embryos have an open neural tube extending from the developing forebrain to the presumptive hindbrain

• no abnormal closure in caudal neural tube

abnormal roof plate morphology ( J:65296 )

• in the caudal neural tube, suggesting a mild closure defect in the spinal cord

abnormal third ventricle morphology ( J:65296 )

abnormal brain commissure morphology ( J:65296 )

absent corpus callosum ( J:65296 )

• corpus callosum completely lacking

• substantial cleft between cerebral hemispheres

• fibers normally crossing corpus callosum form neuromas (Probst bundles)

absent hippocampal commissure ( J:65296 )

abnormal anterior commissure pars posterior morphology ( J:68904 )

• axonal projections of the posterior limb of the anterior commisure fail to reach the midline and sometimes project ventrally

absent anterior commissure ( J:65296 )

abnormal stratification in cerebral cortex ( J:65296 , J:68904 )

• disorganized layering of cerebral cortex (J:65296)

• diffuse organization of neurons in the cortical plate (J:65296)

• intermediate zone subcortical axon tracts reduced in thickness (J:68904)

abnormal innervation ( J:68904 )

• fascicles of subcortical axon tracts sometimes ectopically invade cortical plate

exencephaly ( J:65296 )

• in about 30% of newborns

abnormal vagus ganglion morphology ( J:68904 )

• ganglion diffuse

• abnormal sprouting of fine rootlets

abnormal cranial nerve morphology ( J:68904 )

abnormal facial nerve morphology ( J:68904 )

• diffuse projections

abnormal glossopharyngeal nerve morphology ( J:68904 )

• abnormal sprouting of fine rootlets

abnormal hypoglossal nerve morphology ( J:68904 )

• diffuse projections

abnormal trigeminal nerve morphology ( J:68904 )

• trigeminal nerve more diffuse

growth/size/body

decreased embryo size ( J:65296 )

omphalocele ( J:65296 )

• about 2% show a failed fusion of the body wall at the navel

decreased body size ( J:65296 )

• mice surviving more than 2 days are runted

embryo

decreased embryo size ( J:65296 )

abnormal floor plate morphology ( J:65296 )

• reduced apical constriction of neuroepithelial cells in presumptive floor plate is sometimes seen

incomplete rostral neuropore closure ( J:65296 )

• 30% of E10.5 embryos have severe cranial neural tube closure defects; these embryos have an open neural tube extending from the developing forebrain to the presumptive hindbrain

• no abnormal closure in caudal neural tube

abnormal roof plate morphology ( J:65296 )

• in the caudal neural tube, suggesting a mild closure defect in the spinal cord

pigmentation

retina pigment epithelium hyperplasia ( J:65296 )

Genotype
MGI:5790397

ht3

• Allelic Composition: Arhgap35^m1Bchd/Arhgap35^tm1Jset
• Genetic Background: involves: 129S2/SvPas * C3H/HeNCrl * C57BL/6J

Hypoplastic and glomerulocystic kidneys in Arhgap35^tm1Jset/Arhgap35^m1Bchd mutants

mortality/aging

perinatal lethality, complete penetrance ( J:232342 )

• early perinatal lethality

renal/urinary system

abnormal kidney morphology ( J:232342 )

• 100% of E17.5 embryos display hypodysplastic kidneys

renal glomerulus cyst ( J:232342 )

• cystic glomeruli at E17.5

renal hypoplasia ( J:232342 )

• E17.5 kidneys exhibit hypoplasia or agenesis

single kidney ( J:232342 )

• E17.5 kidneys exhibit hypoplasia or agenesis

nervous system

abnormal neural tube closure ( J:232342 )

• 38% of E17.5 embryos display neural tube closure defects (exencephaly and spina bifida)

spina bifida ( J:232342 )

• at E17.5

exencephaly ( J:232342 )

• at E17.5

embryo

abnormal neural tube closure ( J:232342 )

• 38% of E17.5 embryos display neural tube closure defects (exencephaly and spina bifida)

spina bifida ( J:232342 )

• at E17.5

growth/size/body

renal glomerulus cyst ( J:232342 )

• cystic glomeruli at E17.5