Mouse Genome Informatics
hm
    Fmr1tm1Cgr/Fmr1tm1Cgr
involves: 129P2/OlaHsd
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in all eye blink conditioning training session the percentage and peak amplitudes of the startle responses were higher

nervous system
• 60.4% decrease in neuronal differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• 74.9% increase in astrocyte differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• exogenously expressed wild-type gene, but not mutant (I304N) rescues both the neuronal and the astrocyte differentiation deficits in homozygous mutant cells
• reduced (10.4% ) neuronal differentiation but greater (75.7%) glial differentiation in aNPCs residing in the DG compared with wild-type mice
• increased proliferation of isolated aNPCs from both the forebrain and DG of adult homozygous mice
• 11% more cells in mitotic (G2/M) phase compared with wild-type controls
• increased proliferation of both stem and progenitor cells in the DG and subventricular zone of mutant mice
• normal proliferation of astrocytes in the DG of mutant mice
• increased volume of the dentate gyrus (DG) in mutant mice
• the percentage of single climbing fiber innervation is increased, the length of spine heads and necks is increased, and spines are more irregular
• induction of long term depression in Purkinje cells is significantly enhanced when stimulating parallel fibers

cellular
• 60.4% decrease in neuronal differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• 74.9% increase in astrocyte differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• exogenously expressed wild-type gene, but not mutant (I304N) rescues both the neuronal and the astrocyte differentiation deficits in homozygous mutant cells
• reduced (10.4% ) neuronal differentiation but greater (75.7%) glial differentiation in aNPCs residing in the DG compared with wild-type mice
• increased proliferation of isolated aNPCs from both the forebrain and DG of adult homozygous mice
• 11% more cells in mitotic (G2/M) phase compared with wild-type controls
• increased proliferation of both stem and progenitor cells in the DG and subventricular zone of mutant mice
• normal proliferation of astrocytes in the DG of mutant mice

Mouse Models of Human Disease
OMIM IDRef(s)
Fragile X Mental Retardation Syndrome 300624 J:101021