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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cwh43em1Mdj
endonuclease-mediated mutation 1, Mark D Johnson
MGI:7437687
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Cwh43em1Mdj/Cwh43em1Mdj C57BL/6-Cwh43em1Mdj MGI:7437702
ht2
 		Cwh43em1Mdj/Cwh43+ C57BL/6-Cwh43em1Mdj MGI:7437706
ht3
 		Cwh43em1Mdj/Cwh43em2Mdj C57BL/6-Cwh43em1Mdj/Cwh43em2Mdj MGI:7437708


Genotype
MGI:7437702
hm1
Allelic
Composition		 Cwh43em1Mdj/Cwh43em1Mdj
Genetic
Background		 C57BL/6-Cwh43em1Mdj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cwh43em1Mdj mutation (0 available); any Cwh43 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:310176 )
• 7-month-old mice show decreased balance times on the rotarod
abnormal gait ( J:310176 )
• gait analysis shows increased rear leg sway at 7 months of age

nervous system
hydrocephaly ( J:310176 )
• mice appear normal at birth but develop hydrocephalus during middle age
abnormal brain ventricle morphology ( J:310176 )
• the distribution of GPI-anchored proteins in the ventricular ciliated epithelium is altered in middle-aged mice
abnormal brain ependyma morphology ( J:310176 )
• the number of microvilli on the ependymal surface is decreased in middle-aged mice
decreased brain ependyma motile cilium number ( J:310176 )
• the brain ventricular surface shows an approximate 28% decrease in the number of ependymal cilia at middle age
• however, obvious differences in cilia length are not seen
dilated brain ventricle ( J:310176 )
• ventricular volume is increased by about 18.3% in 6-month-old mice
• however, brains are grossly normal and the cerebral aqueduct is patent

cellular
decreased brain ependyma motile cilium number ( J:310176 )
• the brain ventricular surface shows an approximate 28% decrease in the number of ependymal cilia at middle age
• however, obvious differences in cilia length are not seen

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
normal pressure hydrocephalus DOID:1572 OMIM:236690
 J:310176




Genotype
MGI:7437706
ht2
Allelic
Composition		 Cwh43em1Mdj/Cwh43+
Genetic
Background		 C57BL/6-Cwh43em1Mdj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cwh43em1Mdj mutation (0 available); any Cwh43 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:310176 )
• 7-month-old mice show decreased balance times on the rotarod

nervous system
hydrocephaly ( J:310176 )
• mice appear normal at birth but develop hydrocephalus during middle age
abnormal brain ventricle morphology ( J:310176 )
• the distribution of GPI-anchored proteins in the ventricular ciliated epithelium is altered in middle aged mice
dilated brain ventricle ( J:310176 )
• ventricular volume is increased by about 24.2% in 6-month-old mice
• however, brains are grossly normal and the cerebral aqueduct is patent

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
normal pressure hydrocephalus DOID:1572 OMIM:236690
 J:310176




Genotype
MGI:7437708
ht3
Allelic
Composition		 Cwh43em1Mdj/Cwh43em2Mdj
Genetic
Background		 C57BL/6-Cwh43em1Mdj/Cwh43em2Mdj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cwh43em1Mdj mutation (0 available); any Cwh43 mutation (46 available)
Cwh43em2Mdj mutation (0 available); any Cwh43 mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:310176 )
• 7-month-old mice show decreased balance times on the rotarod
abnormal gait ( J:310176 )
• gait analysis shows increased rear leg sway at 7 months of age

nervous system
hydrocephaly ( J:310176 )
• mice appear normal at birth but develop hydrocephalus during middle age
abnormal brain ependyma morphology ( J:310176 )
• the number of microvilli on the ependymal surface is decreased at 6 months of age
decreased brain ependyma motile cilium number ( J:310176 )
• the brain ventricular surface shows an approximate 25% decrease in the number of ependymal cilia at 6 months of age
• however, obvious differences in cilia length are not seen
dilated brain ventricle ( J:310176 )
• ventricular volume is increased by about 20.8% in 6-month-old mice
• however, brains are grossly normal and the cerebral aqueduct is patent

cellular
decreased brain ependyma motile cilium number ( J:310176 )
• however, obvious differences in cilia length are not seen
• the brain ventricular surface shows an approximate 25% decrease in the number of ependymal cilia at 6 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
normal pressure hydrocephalus DOID:1572 OMIM:236690
 J:310176




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory