Phenotypes associated with this allele

• Allele Symbol: Hydin^hy3
• Allele Name: hydrocephalus 3
• Allele ID: MGI:1856913
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hydin^hy3/Hydin^hy3	involves: CBA	MGI:3605005
hm2	Hydin^hy3/Hydin^hy3	involves: FVB/N	MGI:3819162

Genotype
MGI:3605005

hm1

• Allelic Composition: Hydin^hy3/Hydin^hy3
• Genetic Background: involves: CBA

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

mortality/aging

premature death ( J:13035 )

• usually die before 2 months of age, generally around 4-6 week

craniofacial

abnormal cranium morphology ( J:5426 )

• thin skull

wide cranial sutures ( J:5426 )

• open sutures

enlarged cranium ( J:13035 )

• skull volume doubled at birth, 0.88cc vs 0.44cc

• does not develop before 3-5 days after birth or possible the 2nd week of life

enlarged parietal bone ( J:13103 )

domed cranium ( J:13035 )

• develops after the first week of life

nervous system

hydrocephaly ( J:13035 )

abnormal brain interventricular foramen morphology ( J:13103 )

• foramina of Monro wider than normal

abnormal cerebral aqueduct morphology ( J:5377 )

• aqueduct of Sylvius occluded around 16 days of age

abnormal telencephalon morphology ( J:5377 )

• enlargement of extracellular spaces in the white matter after occlusion of the aqueduct of Sylvius

dilated lateral ventricle ( J:13035 )

• enormously dilated at birth

• thinning of pallium but basal ganglia less affected

• not apparent before 3-5 days of age

thin cerebral cortex ( J:5426 )

• cerebral cortex smooth and very thin

abnormal ependyma morphology ( J:5426 )

• flattened cells in the ependymal lining

abnormal brain meninges morphology ( J:13103 )

• calvarium tends to adhere more tightly to brain

• reduction of meningeal layers at 8 days of age

• swelling of cells in meninges in the area of the foramina of Luschka and the otic capsules

growth/size/body

cachexia ( J:13035 )

• eventually loose weight

• in an emaciated condition at the time of death

postnatal growth retardation ( J:13035 )

• general growth retardation

• never reach normal size

behavior/neurological

abnormal aggression-related behavior ( J:5426 )

• episodes of aggressive behavior

abnormal fear/anxiety-related behavior ( J:5426 )

• "cowering" behavior observed at 21 days of age

ataxia ( J:5426 )

decreased locomotor activity ( J:13035 )

• become inactive as they age

reproductive system

male infertility ( J:13035 )

♂ • probably (N=1)

muscle

muscle spasm ( J:13103 )

• develop spasticity of the hind limbs

respiratory system

abnormal respiratory system physiology ( J:13035 , J:13103 )

• nasal discharge composed of squamous epithelia and polymorphonuclear leukocytes (J:13035)

• nasal discharge not seen in later studies (J:13103)

skeleton

abnormal cranium morphology ( J:5426 )

• thin skull

wide cranial sutures ( J:5426 )

• open sutures

enlarged cranium ( J:13035 )

• skull volume doubled at birth, 0.88cc vs 0.44cc

• does not develop before 3-5 days after birth or possible the 2nd week of life

enlarged parietal bone ( J:13103 )

domed cranium ( J:13035 )

• develops after the first week of life

kyphosis ( J:5426 )

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:5426

Genotype
MGI:3819162

hm2

• Allelic Composition: Hydin^hy3/Hydin^hy3
• Genetic Background: involves: FVB/N

Growth retardation and hydrocephalus in Hydin^hy3/Hydin^hy3 mice

mortality/aging

postnatal lethality ( J:135322 )

• mice rarely survive beyond 3 weeks of age

nervous system

abnormal ependyma motile cilium morphology ( J:135322 )

• in the central axoneme apparatus of the ependymal cilia, the C2b projection is absent, the C1b projection is displaced or altered in shape and the C2c projection is reduced or absent compared to in wild-type cilia

hydrocephaly ( J:135322 )

• hydroencephaly is associated with defective ependymal cilia bending, delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow

abnormal brainstem morphology ( J:135322 )

• small

small olfactory bulb ( J:135322 )

small cerebellum ( J:135322 )

respiratory system

abnormal respiratory motile cilium morphology ( J:135322 )

• in the central axoneme apparatus of the tracheal cilia, the C2b projection is absent and the C1b and C2c projections are displaced or altered in compared to in wild-type cilia

abnormal respiratory motile cilium physiology ( J:135322 )

• tracheal cilia beating is impaired with delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow

abnormal mucociliary clearance ( J:135322 )

• tracheal cilia beating is impaired with delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow

skeleton

domed cranium ( J:135322 )

cardiovascular system

hemorrhage ( J:135322 )

• some mice exhibit severe hemorrhage below the skull

growth/size/body

postnatal growth retardation ( J:135322 )

• at P4

craniofacial

domed cranium ( J:135322 )

cellular

abnormal ependyma motile cilium morphology ( J:135322 )

• in the central axoneme apparatus of the ependymal cilia, the C2b projection is absent, the C1b projection is displaced or altered in shape and the C2c projection is reduced or absent compared to in wild-type cilia

abnormal respiratory motile cilium morphology ( J:135322 )

• in the central axoneme apparatus of the tracheal cilia, the C2b projection is absent and the C1b and C2c projections are displaced or altered in compared to in wild-type cilia

abnormal respiratory motile cilium physiology ( J:135322 )

• tracheal cilia beating is impaired with delayed switching between forward and backward motion, lower beat frequency, and impaired cilia-generated flow