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

involves: 129S4/SvJae * C57BL/6 * C57BL/6JJms
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die by 36 weeks of age, with females surviving a median of 26.7 weeks (J:206001)

growth/size
• body weight decreases gradually after 15 weeks of age (J:206001)

behavior/neurological
• mice tuck their hindlimbs to their bodies when lifted by the tail (J:206001)
• mice begin to develop spontaneous tremors at 20 weeks of age (J:206001)
• mice begin to develop a rounded back at 20 weeks of age (J:206001)
• mice begin to show slow movements at 20 weeks of age (J:206001)
• mice begin to show gait disturbances at 20 weeks of age (J:206001)

homeostasis/metabolism
• BUN levels are higher in 20 week old mice (J:206001)
• lower urine osmolality from 5 weeks of age onwards (J:206001)
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter (J:206001)
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment (J:206001)

renal/urinary system
• lower urine osmolality from 5 weeks of age onwards (J:206001)
• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter (J:206001)
• beta2-microglobulin is seen in the urine indicating proximal tubule impairment (J:206001)
• kidney weight is about 1.2-fold higher than in controls (J:206001)
• enlarged kidney tubular cells, however Bowman's capsule is normal (J:206001)
• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age (J:206001)

vision/eye
• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice (J:206001)

Mouse Models of Human Disease
OMIM IDRef(s)
Fabry Disease 301500 J:206001