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Phenotypes Associated with This Genotype
Genotype
MGI:5566998
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


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
12/10/2024
MGI 6.24
The Jackson Laboratory