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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rreb1Sao
shaky all over
MGI:5817430
Summary 4 genotypes


Genotype
MGI:5817431
hm1
Allelic
Composition		 Rreb1Sao/Rreb1Sao
Genetic
Background		 B6.Cg-Rreb1Sao/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rreb1Sao mutation (0 available); any Rreb1 mutation (164 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tremors ( J:237902 )
• by 3 weeks of age homozygote have a shaking gait and whole body tremor




Genotype
MGI:7579104
hm2
Allelic
Composition		 Rreb1Sao/Rreb1Sao
Genetic
Background		 NOD.Cg-Rreb1Sao/Slac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rreb1Sao mutation (0 available); any Rreb1 mutation (164 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
ataxia ( J:344350 )
• mild ataxia and tremor begin at 4 weeks of age

nervous system
abnormal Purkinje cell morphology ( J:344350 )
• Purkinje cells have fewer lysosomes and autophagosomes and show accumulating protein inclusions
Purkinje cell degeneration ( J:344350 )
• homozygotes display apoptotic Purkinje cell degeneration beginning at 4 weeks of age, which progresses rostrally to caudally with an average of only 16% of Purkinje cells surviving at 1 year




Genotype
MGI:7579107
ht3
Allelic
Composition		 Rreb1Sao/Rreb1+
Genetic
Background		 NOD.Cg-Rreb1Sao/Slac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rreb1Sao mutation (0 available); any Rreb1 mutation (164 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
Purkinje cell degeneration ( J:344350 )
• heterozygotes display apoptotic Purkinje cell degeneration beginning at 6 months of age and approximately 72% of Purkinje cells survive at 1 year




Genotype
MGI:5817433
cx4
Allelic
Composition		 Il10tm1Cgn/Il10tm1Cgn
Rreb1Sao/Rreb1Sao
Genetic
Background		 NOD.Cg-Il10tm1Cgn Rreb1Sao
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Il10tm1Cgn mutation (15 available); any Il10 mutation (45 available)
Rreb1Sao mutation (0 available); any Rreb1 mutation (164 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tremors ( J:237902 )
• by 3 weeks of age homozygotes have ataxia and a whole body tremor

nervous system
decreased Purkinje cell number ( J:237902 )
• histology of two homozygotes at 34 weeks of age found severe Purkinje cell loss

digestive/alimentary system
rectal prolapse ( J:237902 )
• double homozygous mothers on the NOD background often develop rectal prolapse after bearing 1 to 3 litters




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory