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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rbfox2tm1.1Dblk
targeted mutation 1.1, Douglas Black
MGI:4838182
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Pcp2-cre)2Mpin/0
involves: 129 * C57BL/6J MGI:5318257
cn2
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL MGI:5291910
cn3
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL MGI:5318255
cn4
Rbfox1tm1.1Dblk/Rbfox1+
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL MGI:5318256


Genotype
MGI:5318257
cn1
Allelic
Composition
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox1tm1.1Dblk mutation (1 available); any Rbfox1 mutation (17 available)
Rbfox2tm1.1Dblk mutation (1 available); any Rbfox2 mutation (46 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• do not display ataxia
• shorter mean latency to fall in the first trial and performance improves only slightly over subsequent trials

nervous system
N
• do not display defects in cerebellar development
• at P70, but not at P20, Purkinje cells show a decrease in firing frequency
• at P70 Purkinje cells show an increase in variability of firing




Genotype
MGI:5291910
cn2
Allelic
Composition
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox2tm1.1Dblk mutation (1 available); any Rbfox2 mutation (46 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice that develop hydrocephalus require euthanasia
• about 40% of males die by 1 month of age

nervous system
• some surviving mice (12 of 33) develop hydrocephalus at 8 - 12 weeks of age
• about 20% more Purkinje cells per unit area at P5 in the cerebellum
• however, at later stages cell numbers do not differ
• more than 10% of the Purkinje cells are ectopically located in the internal granule cell layer at P10
• Purkinje cells show a moderate decrease in firing frequency
• three fold increase in apoptosis per unit are at P5 in the cerebellum
• at E18 many Purkinje cells remain near their origin in the ventricular zone
• minor decrease in proliferation in the external granule cell layer
• marked reduction in proliferation in the internal granule cell layer

behavior/neurological
N
• mice exhibit normal susceptibility to spontaneous or induced seizures
• worsens with age
• impaired locomotion that worsens with age

growth/size/body
• males weigh only 44% of wild-type males at P21
• females weigh only 59% of wild-type females at P21

cellular
• three fold increase in apoptosis per unit are at P5 in the cerebellum
• at E18 many Purkinje cells remain near their origin in the ventricular zone
• minor decrease in proliferation in the external granule cell layer
• marked reduction in proliferation in the internal granule cell layer




Genotype
MGI:5318255
cn3
Allelic
Composition
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox1tm1.1Dblk mutation (1 available); any Rbfox1 mutation (17 available)
Rbfox2tm1.1Dblk mutation (1 available); any Rbfox2 mutation (46 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:5318256
cn4
Allelic
Composition
Rbfox1tm1.1Dblk/Rbfox1+
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox1tm1.1Dblk mutation (1 available); any Rbfox1 mutation (17 available)
Rbfox2tm1.1Dblk mutation (1 available); any Rbfox2 mutation (46 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• euthanasia due to immobility by 3?4 weeks of age

nervous system
• Purkinje cells show a marked decrease in firing frequency

behavior/neurological
• develop severe ataxia by 2 weeks of age becoming immobile by 3-4 weeks of age

growth/size/body
• very small





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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory