Phenotypes associated with this allele

• Allele Symbol: Upk2^tm1Tsun
• Allele Name: targeted mutation 1, Tung-Tien Sun
• Allele ID: MGI:3527893
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Upk2^tm1Tsun/Upk2^tm1Tsun	involves: 129S/SvEv * Black Swiss	MGI:3528392

Genotype
MGI:3528392

hm1

• Allelic Composition: Upk2^tm1Tsun/Upk2^tm1Tsun
• Genetic Background: involves: 129S/SvEv * Black Swiss

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

Upk2^tm1Tsun/Upk2^tm1Tsun urothelium lacks a typical umbrella cell layer and becomes hyperplastic

mortality/aging

postnatal lethality, incomplete penetrance ( J:95622 )

• some, but not all, homozygous breeding pairs produce litters in which all the pups die around P8-P10

growth/size/body

postnatal growth retardation ( J:95622 )

• homozygotes that die postnatally display growth retardation

homeostasis/metabolism

increased blood urea nitrogen level ( J:95622 )

• BUN is almost doubled

• in homozygotes that die postnatally a sharp upsurge in BUN is seen

abnormal urine homeostasis ( J:95622 )

• decreased levels of many urine components including uric acid, creatinine, potassium, sodium, and chloride ions are seen

decreased urine creatinine level ( J:95622 )

decreased urine chloride ion level ( J:95622 )

decreased urine potassium level ( J:95622 )

decreased urine sodium level ( J:95622 )

decreased urine uric acid level ( J:95622 )

renal/urinary system

abnormal urine homeostasis ( J:95622 )

• decreased levels of many urine components including uric acid, creatinine, potassium, sodium, and chloride ions are seen

decreased urine creatinine level ( J:95622 )

decreased urine chloride ion level ( J:95622 )

decreased urine potassium level ( J:95622 )

decreased urine sodium level ( J:95622 )

decreased urine uric acid level ( J:95622 )

hydronephrosis ( J:95622 )

ureter obstruction ( J:95622 )

• areas of the ureter are partially or completely occluded by epithelial polyps

abnormal urothelium morphology ( J:95622 )

• the urothelium lacks the superficial umbrella cell layer instead the superficial cells are small and no apical plaques are seen

• also, the urothelium is hyperplastic and 3- to 6-fold thicker than normal

abnormal urinary bladder physiology ( J:95622 )

• the hydrostatic pressure at which vesicoureteral reflux occurs is reduced however the pressure to induce urination is the same as in wild-type mice resulting in significant reflux of urine back into the kidneys

polyuria ( J:95622 )

• homozygotes produce a greater volume of urine per micturition, urinate more frequently, and have a greater total urine output compared to wild-type mice