About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5566998
Allelic
Composition
Glatm1Kul/Glatm1Kul
Tg(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 (2 available); any Gla mutation (9 available)
Tg(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

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
• 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
• kidney weight is about 1.2-fold higher than in controls
• 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
OMIM ID Ref(s)
Fabry Disease 301500 J:206001


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/22/2016
MGI 6.04
The Jackson Laboratory