Phenotypes Associated with This Genotype

Genotype
MGI:2450509

• Allelic Composition: Adamts1^tm1Hku/Adamts1^tm1Hku
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

adipose tissue

decreased total body fat amount ( J:62260 )

• reduced volume of epidymal fat

endocrine/exocrine glands

abnormal adrenal medulla morphology ( J:62260 )

• cavities in the adrenal medulla

• decrease in amount of capillaries

• normal adrenal cortex

• normal levels of catecholamine metabolites in urine, indicating normal adrenal function

decreased mature ovarian follicle number ( J:62260 )

♀

growth/size/body

decreased body weight ( J:62260 )

• 30% reduction at 9 months of age

uterus cyst ( J:62260 )

♀ • cystic formations

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:62260 )

N • normal serum cholesterol, glucose and cholesterol levels

N • normal serum creatine levels

N • normal blood urea nitrogen levels

decreased urine chloride ion level ( J:62260 )

decreased urine potassium level ( J:62260 )

decreased urine sodium level ( J:62260 )

renal/urinary system

decreased urine chloride ion level ( J:62260 )

decreased urine potassium level ( J:62260 )

decreased urine sodium level ( J:62260 )

abnormal kidney corticomedullary boundary morphology ( J:62260 )

• severely reduced corticomedullary tissue

absent kidney papilla ( J:62260 )

• poorly developed or absent papillae

kidney papillary hypoplasia ( J:62260 )

• poorly developed or absent papillae

dilated kidney calyx ( J:62260 )

• greatly enlargeed caliceal space, first evident at 1 wk and progressing afterward

abnormal ureter morphology ( J:62260 )

• accumulation of collagen between epithelial and smooth muscle cell layers

abnormal ureteropelvic junction morphology ( J:62260 )

• retraction of the ureteropelvic junction inside the hilium, which was surrounded by fibrous tissue

ureteropelvic junction obstruction ( J:62260 )

• obstruction of the ureteropelvic junction

polyuria ( J:62260 )

• increased urine volumes on 0.7% and 8.0% NaCl diets

reproductive system

decreased mature ovarian follicle number ( J:62260 )

♀

uterus cyst ( J:62260 )

♀ • cystic formations

dilated uterus ( J:62260 )

♀

impaired embryo implantation ( J:62260 )

♀ • reduced number of implantations observed 10 dpc

reduced female fertility ( J:62260 )

♀ • 13% of females became pregnant after plug formation; males were fertile

decreased litter size ( J:62260 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
urinary tract obstruction		DOID:5200		J:62260