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Phenotypes Associated with This Genotype
Genotype
MGI:2176491
Allelic
Composition
Ggt1tm1Zuk/Ggt1tm1Zuk
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ggt1tm1Zuk mutation (0 available); any Ggt1 mutation (7 available)
phenotype observed in females
phenotype observed in males
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)
• 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)
• lethality rescued by administration of N-acetyl cysteine in drinking water starting at weaning (J:77691)

pigmentation
• agouti mice have a gray hue (J:34309)
• etiology: low levels of cysteine compromises phaeomelanin synthesis (J:34309)
• agouti mice have a gray hue (J:34309)
• etiology: low levels of cysteine compromises phaeomelanin synthesis (J:34309)

growth/size/body
• by six weeks of age mutant mice are about half the weight of normal siblings (J:34309)
• by six weeks of age mutant mice are about half the weight of normal siblings (J:34309)

homeostasis/metabolism
• normal plasma cysteine levels are reduced by 80% (J:34309)
• normal plasma cysteine levels are reduced by 80% (J:34309)

reproductive system
(J:65574)
(J:65574)
• follicular degeneration is apparent between 11 and 13 weeks of age (J:65574)
• 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)
• tubule diameters are normal (J:65574)
• spermatogenesis is normal,including late stage spermatids (J:65574)
(J:65574)
(J:65574)
• reproductive tracts of both females and males are hypoplastic (J:34309)
• reproductive tracts of both females and males are hypoplastic (J:34309)
• N-acetylcysteine supplemented diet reverses infertility (J:65574)
• N-acetylcysteine supplemented diet reverses infertility (J:65574)
• 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)
• 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)
• 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 (J:66279)
• nuclear opacities are evident by one week of age (J:66279)

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

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

integument
• agouti mice have a gray hue (J:34309)
• etiology: low levels of cysteine compromises phaeomelanin synthesis (J:34309)
• agouti mice have a gray hue (J:34309)
• etiology: low levels of cysteine compromises phaeomelanin synthesis (J:34309)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory