Mouse Genome Informatics
cx
    Glatm1Kul/Y
Tg(A4GALT)#Sais/0

involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms
Key:
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

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