Mouse Genome Informatics
hm
    Ggt1tm1Zuk/Ggt1tm1Zuk
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Gross and histologic analysis of wild-type and Ggt1tm1Zuk/Ggt1tm1Zuk mice.

mortality/aging
• most mice die between 10 and 18 weeks of age (J:34309)
• lethality rescued by administration of N-acetyl cysteine in drinking water starting at weaning (J:77691)

pigmentation
• agouti mice have a gray hue
• etiology: low levels of cysteine compromises phaeomelanin synthesis

growth/size
• by six weeks of age mutant mice are about half the weight of normal siblings

homeostasis/metabolism
• normal plasma cysteine levels are reduced by 80%

reproductive system
• follicular degeneration is apparent between 11 and 13 weeks of age (J:65574)
• tubule diameters are normal (J:65574)
• spermatogenesis is normal,including late stage spermatids (J:65574)
(J:65574)
• reproductive tracts of both females and males are hypoplastic
• N-acetylcysteine supplemented diet reverses infertility (J:65574)
• N-acetylcysteine supplemented diet reverses infertility (J:65574)

vision/eye
• mice develop cataracts by 7 days (J:34309)
• severe cataracts develop by 3 weeks of age (J:66279)
• etiology: exposure to light, reduced lens GSH levels, and nutritional effects secondary to low cysteine levels (J:66279)
• nuclear opacities are evident by one week of age

skeleton
N
(J:84348)
• etiology: proliferative defect of chondrocytes
• decreased growth plate
• due to increased osteoclast number and activity

endocrine/exocrine glands
• follicular degeneration is apparent between 11 and 13 weeks of age (J:65574)
• tubule diameters are normal (J:65574)
• spermatogenesis is normal,including late stage spermatids (J:65574)

integument
• agouti mice have a gray hue
• etiology: low levels of cysteine compromises phaeomelanin synthesis

Mouse Models of Human Disease
OMIM IDRef(s)
Glutathionuria 231950 J:34309