Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm1Hung
• Allele Name: targeted mutation 1, Hung Li
• Allele ID: MGI:3612536
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1Hung/Pkd1^tm1Hung	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)	MGI:3616346

Genotype
MGI:3616346

hm1

• Allelic Composition: Pkd1^tm1Hung/Pkd1^tm1Hung
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

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

mortality/aging

premature death ( J:104361 )

• 50% of homozygotes die within 1-2 months after birth

growth/size/body

pancreas cyst ( J:104361 )

• pancreatic cysts were found in 2 older mice (ages 120 and 360 days)

kidney cyst ( J:104361 )

• at 15.5, dilation and cyst formation is first seen in the medulla, but by P120 the numbers of cysts larger than 300 microns decreases significantly

decreased body size ( J:104361 )

• mutants are growth retarded with shorter stature

decreased body weight ( J:104361 )

postnatal growth retardation ( J:104361 )

distended abdomen ( J:104361 )

• abdomial girth rapidly increases in first 30 days, then decreases coincident with changes in kidney cyst size

enlarged kidney ( J:104361 )

• several days postnatal, kidneys are massively enlarged

• postnatally, kidneys enlarge rapidly for the first 30 day then shrink in volume by more than 50%

homeostasis/metabolism

increased blood urea nitrogen level ( J:104361 )

• from P14, high serum urea nitrogen levels are detected

renal/urinary system

abnormal kidney morphology ( J:104361 )

• by 30 days postnatal, kidneys have a bumpy distorted appearance

• from P14 to P30, kidneys show increased cell proliferation in the renal epithelium compared to wild-type

• at P30, an increase in apoptosis in the renal epithelium cells is detected

• higher rates of apoptosis coincide with regression of renal cysts

kidney cyst ( J:104361 )

• at 15.5, dilation and cyst formation is first seen in the medulla, but by P120 the numbers of cysts larger than 300 microns decreases significantly

enlarged kidney ( J:104361 )

• several days postnatal, kidneys are massively enlarged

• postnatally, kidneys enlarge rapidly for the first 30 day then shrink in volume by more than 50%

renal interstitial fibrosis ( J:104361 )

• at P7, interstitial fibrosis is first evident; this becomes progressively more severe with age

reproductive system

infertility ( J:104361 )

• most surviving pups are sterile

endocrine/exocrine glands

pancreas cyst ( J:104361 )

• pancreatic cysts were found in 2 older mice (ages 120 and 360 days)

skeleton

abnormal skeleton development ( J:104361 )

• bone defects are observed postnatally in homozygotes

liver/biliary system

liver/biliary system phenotype ( J:104361 )

N • no liver cysts are seen

cardiovascular system

cardiovascular system phenotype ( J:104361 )

N • aorta and heart morphology are normal

respiratory system

respiratory system phenotype ( J:104361 )

N • lung morphology is normal