Phenotypes Associated with This Genotype

Genotype
MGI:7767871

• Allelic Composition: Trim71^em1Ktka/Trim71⁺
• Genetic Background: Not Specified

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

nervous system

abnormal embryonic neuroepithelium morphology ( J:335575 )

• E9.5 neuroepithelia of embryos has fewer pH3+ cells (cell proliferation marker) and more DCX+ cells (marker of immature neurons)

hydrocephaly ( J:335575 )

• fetal hydrocephalus

cerebral aqueductal stenosis ( J:335575 )

• P0 hydrocephalic mice exhibit patency of the midbrain cerebral aqueduct (aqueductal stenosis) but the aqueduct narrows by P21

• however, ependymal and choroid plexus cells appear morphologically normal in P0 hydrocephalic mice

enlarged brain ventricles ( J:335575 )

• severe ventriculomegaly is detectable at birth (P0) in approximately 16% mice

• by P21, hydrocephalic mice exhibit progressive ventriculomegaly associated with macrocephaly and doming of the skull

abnormal cerebral cortex morphology ( J:335575 )

• mice at birth show ventriculomegaly with decreased cerebral cortex volume (cerebrocortical hypoplasia) despite normal intracranial volume

thin cerebral cortex ( J:335575 )

• hydrocephalic mice exhibit a thinned cerebral cortex at P0 with reduced thickness of the superficial and deep cortical layers

decreased neuron number ( J:335575 )

• cortical neurogenesis: marker analysis shows reduced numbers of neurons in cortical layers in hydrocephalic mice at P0

abnormal nervous system physiology ( J:335575 )

• intracranial pressure is elevated at P7 in hydrocephalic mice

• mice show abnormal brain-fluid biomechanics, showing a reduction in stiffness and relaxation modulus and increased compliance in P7 hydrocephalic brain tissues, suggesting that brains are hypercompliant and less able to resist mechanical strain, leading to accommodation of greater CSF volume at any given CSF pressure

abnormal neuron proliferation ( J:335575 )

• subventricular zone neural proliferation is reduced in hydrocephalic mice at P0

abnormal cerebrospinal fluid flow ( J:335575 )

• hydrocephalic mice show impaired cerebrospinal fluid (CSF) outflow from the forebrain ventricles

• however, ependymal cilia-generated CSF flow is unaffected in P7 hydrocephalic mice

decreased embryonic neuroepithelial cell proliferation ( J:335575 )

• E9.5 neuroepithelia of embryos has fewer pH3+ cells, indicating decreased cell proliferation

decreased neuronal stem cell self-renewal ( J:335575 )

• embryonic stem cells are less proliferative than wild-type stem cells upon N2B27-induced neural differentiation

growth/size/body

megacephaly ( J:335575 )

• hydrocephalic mice eventually exhibit progressive macrocephaly by P21

skeleton

abnormal cranium morphology ( J:335575 )

• intracranial volume is increased in P21 hydrocephalic mice but not at P0

domed cranium ( J:335575 )

• doming of the skull is seen by P21

cellular

abnormal neuron proliferation ( J:335575 )

• subventricular zone neural proliferation is reduced in hydrocephalic mice at P0

craniofacial

abnormal cranium morphology ( J:335575 )

• intracranial volume is increased in P21 hydrocephalic mice but not at P0

domed cranium ( J:335575 )

• doming of the skull is seen by P21

embryo

abnormal embryonic neuroepithelium morphology ( J:335575 )

• E9.5 neuroepithelia of embryos has fewer pH3+ cells (cell proliferation marker) and more DCX+ cells (marker of immature neurons)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hydrocephalus		DOID:10908	OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219	J:335575