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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(CAG-A4GALT)#Sais
transgene insertion, Satoshi Ishii
MGI:5566993
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Glatm1Kul/Glatm1Kul
Tg(CAG-A4GALT)#Sais/0
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms MGI:5566998
cx2
Glatm1Kul/Y
Tg(CAG-A4GALT)#Sais/0
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms MGI:5567000
tg3
Tg(CAG-A4GALT)#Sais/0 involves: C57BL/6JJms MGI:5566995


Genotype
MGI:5566998
cx1
Allelic
Composition
Glatm1Kul/Glatm1Kul
Tg(CAG-A4GALT)#Sais/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glatm1Kul mutation (4 available); any Gla mutation (20 available)
Tg(CAG-A4GALT)#Sais mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 36 weeks of age, with females surviving a median of 26.7 weeks

growth/size/body
• body weight decreases gradually after 15 weeks of age
• kidney weight is about 1.2-fold higher than in controls

behavior/neurological
• mice tuck their hindlimbs to their bodies when lifted by the tail
• mice begin to develop spontaneous tremors at 20 weeks of age
• mice begin to develop a rounded back at 20 weeks of age
• mice begin to show slow movements at 20 weeks of age
• mice begin to show gait disturbances at 20 weeks of age

homeostasis/metabolism
• BUN levels are higher in 20 week old mice
• lower urine osmolality from 5 weeks of age onwards
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment

renal/urinary system
• kidney weight is about 1.2-fold higher than in controls
• lower urine osmolality from 5 weeks of age onwards
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
• enlarged kidney tubular cells, however Bowman's capsule is normal
• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age

vision/eye
• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fabry disease DOID:14499 OMIM:301500
J:206001




Genotype
MGI:5567000
cx2
Allelic
Composition
Glatm1Kul/Y
Tg(CAG-A4GALT)#Sais/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glatm1Kul mutation (4 available); any Gla mutation (20 available)
Tg(CAG-A4GALT)#Sais mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 36 weeks of age, with males surviving a median of 27.6 weeks

growth/size/body
• body weight decreases gradually after 15 weeks of age
• kidney weight is about 1.2-fold higher than in controls

behavior/neurological
• daily water intake of male is greater in 15 week old mice
• mice tuck their hindlimbs to their bodies when lifted by the tail
• mice begin to develop spontaneous tremors at 20 weeks of age
• mice begin to develop a rounded back at 20 weeks of age
• mice begin to show slow movements at 20 weeks of age
• mice begin to show gait disturbances at 20 weeks of age

homeostasis/metabolism
• BUN levels are normal in 5 week old males, but rise progressively from 15 weeks of age onwards
• lower urine osmolality from 5 weeks of age onward
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment

nervous system
• lipid inclusions are seen in neurons and cells around blood vessels in the brain

renal/urinary system
• kidney weight is about 1.2-fold higher than in controls
• lower urine osmolality from 5 weeks of age onward
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
• a small number of lipid inclusions are seen in podocytes
• 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
• 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

vision/eye
• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fabry disease DOID:14499 OMIM:301500
J:206001




Genotype
MGI:5566995
tg3
Allelic
Composition
Tg(CAG-A4GALT)#Sais/0
Genetic
Background
involves: C57BL/6JJms
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice do not show any clinical phenotypes and have a normal life span





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory