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Phenotypes Associated with This Genotype
Genotype
MGI:3664785
Allelic
Composition
Grm1crv4/Grm1crv4
Genetic
Background
BALB/cPas-Grm1crv4
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm1crv4 mutation (1 available); any Grm1 mutation (78 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice homozygous for this mutation are one-third smaller than littermates from birth

behavior/neurological
• homozygous mutant mice exhibit whole body tremor during movement
• footprint analysis shows that homozygous mutant mice exhibit a pronounced wide-base, side-to-side rolling gait, with their feet sweeping the floor, and they cannot walk in a straight line

muscle
• homozygous mutant mice exhibit mild hindlimb spasticity

reproductive system
• fertility of homozygous female mice is greatly reduced
• homozygous males seem to be sterile

skeleton
• the dorsal thorax of homozygous mice, particularly of females, often protrudes prominently; X-radiography and, upon necropsy at 6-8 months of age, alizarin red/alcian blue staining of the skeleton reveal thoracic kyphoscoliosis in affected mice

adipose tissue
• homozygous mutant mice often have increased amounts of interscapular brown fat, in some females almost twice the amount present in wild-type female mice

vision/eye
• one or both eyes of homozygous mutant mice appear more closed than those of wild-type mice; examination of sectioned eyes reveals no obvious abnormalities

renal/urinary system
• homozygotes show a 3-fold increase in mean urinary albumin excretion (UAE) values relative to wild-type controls
• albuminuria progresses with increasing age, ranging from low levels (UAE range, 8.95 to 221.51 ug/mg) at 2-6 months of age to higher values at >6 months (UAE range, 55.27 to 423.65 ug/mg), unlike in wild-type controls where values remain constant (UAE range at 2-6 months, 5.62 to 57.21 ug/mg; UAE range at >6 months, 8.80 to 60.12 ug/mg)
• by 8 months of age, homozygotes exhibit diffuse progressive loss of nephrin and synaptopodin, and segmental loss of podocin and ZO-1 relative to wild-type controls
• in culture, primary podocytes display progressive loss of nephrin expression, and remodeling of actin filaments with loss of stress fibers and increased peripheral actin distribution
• as early as 2 months of age, homozygotes exhibit diffuse foot process effacement, unlike wild-type controls
• more severe foot process effacement is noted at 8 months
• homozygotes show a progressive increase in mean foot process width (FPW), defined as the width of one foot process and the adjacent filtration slit, relative to wild-type controls
• at 2 months of age, homozygotes exhibit a convoluted and thickened GBM, unlike wild-type controls
• more severe GBM changes are noted at 8 months
• at 2 months of age and becoming more severe at 8 months
• following i.v. injection of a low dosage of adriamycin (8 mg/kg body weight), 8-month-old homozygotes exhibit glomerular damage with signs of segmental or global glomerulosclerosis, unlike similarly-treated control mice
• at 2 months of age, protein and lipid accumulation is detected in the proximal tubular cells, unlike in wild-type controls
• at 2 months of age, protein accumulation is detected in the proximal tubular cells, unlike in wild-type controls
• at 4-8 months of age, renal tubuli are filled with dense material that stains positive by an antibody against mouse albumin
• following i.v. injection of a low dosage of adriamycin (8 mg/kg body weight), 8-month-old homozygotes exhibit tubular protein casts, unlike similarly-treated control mice
• at 7 months of age, homozygotes a show a significant increase in the mean glomerular permeability to albumin (Palb) value relative to wild-type controls

homeostasis/metabolism
• homozygotes show a 3-fold increase in mean urinary albumin excretion (UAE) values relative to wild-type controls
• albuminuria progresses with increasing age, ranging from low levels (UAE range, 8.95 to 221.51 ug/mg) at 2-6 months of age to higher values at >6 months (UAE range, 55.27 to 423.65 ug/mg), unlike in wild-type controls where values remain constant (UAE range at 2-6 months, 5.62 to 57.21 ug/mg; UAE range at >6 months, 8.80 to 60.12 ug/mg)
• following injection of a low dosage of adriamycin (8 mg/kg body weight), homozygotes exhibit tubular protein casts, damaged glomeruli with signs of segmental or global sclerosis, and increased cellularity (likely due to inflammatory cells), unlike similarly-treated control mice

nervous system
N
• no gross morphological anomalies were observed in the cerebellum, hippocampus or other brain regions of homozygous mutant mice
• Purkinje cell numbers, size and distribution in brains of homozygous mutants appear normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive spinocerebellar ataxia 13 DOID:0080062 OMIM:614831
J:112290


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
03/12/2024
MGI 6.23
The Jackson Laboratory