Phenotypes associated with this allele

• Allele Symbol: Ggt1^enu1
• Allele Name: enu1
• Allele ID: MGI:1857767
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ggt1^enu1/Ggt1^enu1	C57BL/6J-Ggt1^enu1	MGI:5617540

Genotype
MGI:5617540

hm1

• Allelic Composition: Ggt1^enu1/Ggt1^enu1
• Genetic Background: C57BL/6J-Ggt1^enu1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body size ( J:55222 )

• smaller than littermates by 14 days of age

decreased body weight ( J:55222 )

• by 3-4 weeks of age mutant mice weigh significantly less than normal littermates

behavior/neurological

decreased locomotor activity ( J:55222 )

• mutant mice are less active after weaning

nervous ( J:55222 )

• as mutant mice age they are easily agitated

hindlimb paralysis ( J:55222 )

• due to the thoracolumbar kyphosis

integument

abnormal coat appearance ( J:55222 )

• as mutant mice age the fur appears rough and dull

skeleton

kyphosis ( J:55222 )

• mice develop severe thoracolumbar kyphosis

• this condition leads to paralysis of hindlimbs

reproductive system

priapism ( J:55222 )

female infertility ( J:55222 )

♀

male infertility ( J:55222 )

♂

vision/eye

cataract ( J:55222 )

• as early as 2 but by 3 months of age 10 percent of mice exhibiyt unilateral cataracts

• Nissl staining of coronal sections of the lens show subcapsular location of cataracts

mortality/aging

premature death ( J:55222 )

• mutant mice lived a range of 70-512 days compared with normal siblings who lived 74-929 days

homeostasis/metabolism

increased circulating glutathione level ( J:55222 )

• total glutathione concentration was increased in blood (and urine)

• authors consider this mutation a model of gamma-glutamyl transferae deficiency and glutathionuria

decreased glutathione level ( J:55222 )

• total glutathione concentration was decreased in liver homogenates from affected mice

glutathionuria ( J:55222 )

• total glutathione concentration was increased in urine

renal/urinary system

glutathionuria ( J:55222 )

• total glutathione concentration was increased in urine