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Allele Symbol Allele Name Allele ID |
Glatm1Kul targeted mutation 1, Ashok B Kulkarni MGI:1861794 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a wobbly gait from impaired coordination of movement is first observed at approximately 5 weeks of age and becomes less severe in the adult
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 15 | DOID:0050965 |
OMIM:606658 |
J:222308 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• a wobbly gait from impaired coordination of movement is first observed at approximately 5 weeks of age and becomes less severe in the adult
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 15 | DOID:0050965 |
OMIM:606658 |
J:222308 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• NKT cell numbers are normal in double homozygous mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die by 36 weeks of age, with females surviving a median of 26.7 weeks
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• body weight decreases gradually after 15 weeks of age
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• kidney weight is about 1.2-fold higher than in controls
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• mice tuck their hindlimbs to their bodies when lifted by the tail
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• mice begin to develop a rounded back at 20 weeks of age
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• mice begin to show slow movements at 20 weeks of age
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• mice begin to show gait disturbances at 20 weeks of age
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• BUN levels are higher in 20 week old mice
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• lower urine osmolality from 5 weeks of age onwards
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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• kidney weight is about 1.2-fold higher than in controls
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• lower urine osmolality from 5 weeks of age onwards
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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• enlarged kidney tubular cells, however Bowman's capsule is normal
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• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age
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• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fabry disease | DOID:14499 |
OMIM:301500 |
J:206001 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die by 36 weeks of age, with males surviving a median of 27.6 weeks
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• body weight decreases gradually after 15 weeks of age
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• kidney weight is about 1.2-fold higher than in controls
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• daily water intake of male is greater in 15 week old mice
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• mice tuck their hindlimbs to their bodies when lifted by the tail
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• mice begin to develop a rounded back at 20 weeks of age
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• mice begin to show slow movements at 20 weeks of age
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• mice begin to show gait disturbances at 20 weeks of age
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• BUN levels are normal in 5 week old males, but rise progressively from 15 weeks of age onwards
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• lower urine osmolality from 5 weeks of age onward
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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• lipid inclusions are seen in neurons and cells around blood vessels in the brain
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• kidney weight is about 1.2-fold higher than in controls
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• lower urine osmolality from 5 weeks of age onward
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|
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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• a small number of lipid inclusions are seen in podocytes
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• enlarged kidney tubular cells, however Bowman's capsule is normal
• large lipid inclusions with electron-dense concentric lamellar structures in the proximal and distal convoluted tubules and collecting ducts in 25 week old mice
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• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age
• males injected with enzyme replacement therapy of recombinant human GLA show reductions in urine volume and albumin concentration, however urine osmolality increases
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• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fabry disease | DOID:14499 |
OMIM:301500 |
J:206001 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Lipid inclusions with electron-dense concentric lamellar structures in the lysosomes of Glatm1Kul/Y renal tubular cells
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• electron microscopy reveales concentric lamellar incusions within lysosomes of renal tubular cells
• marked accumulation of ceramidetrihexoside in the liver and kidneys
• mice otherwise appear healthy up to 10-14 weeks of age
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• marked accumulation of ceramidetrihexoside in the liver and kidneys
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• accumulation of material containing terminal alpha-galactosyl residues in cultured embryonic fibroblasts
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• increase in the aortic diameter during diastole indicating ascending aortic dilation, however it is not associated with aortic valvular regurgitation
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• increase in left ventricular mass at 4 months of age when normalized to body weight
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• heart weight is increased, when normalized to body weight or tibial weight
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• mutant males exhibit mild diastolic left ventricular dysfunction as indicated by a decrease in the maximal diastolic velocity of the mitral annulus, without change in the isovolumic relaxation time
• however, global left ventricular systolic function is similar to wild-type mice
• treatment with a single dose of agalsidase-beta, a type of enzyme replacement therapy, does not affect the left ventricular hypertrophy, function or heart rate, but improves the mRNA signals of early cardiac remodeling
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• heart rate is slower in 4 month old males
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• males exhibit prolonged RR intervals
• however, no differences in PQ, QRS, or corrected QT intervals
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• premature atrial contractions are more frequently observed in mutant males than in wild-type males
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• lower systolic blood pressure in males than in wild-type males
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• mild hypertrophic cardiomyopathy
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• increase in left ventricular mass at 4 months of age when normalized to body weight
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• mild hypertrophic cardiomyopathy
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• increase in left ventricular mass at 4 months of age when normalized to body weight
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• heart weight is increased, when normalized to body weight or tibial weight
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fabry disease | DOID:14499 |
OMIM:301500 |
J:39394 , J:187258 | |
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 04/09/2024 MGI 6.23 |
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