Phenotypes Associated with This Genotype

Genotype
MGI:3617489

• Allelic Composition: Pkd1^tm2Jzh/Pkd1^tm2Jzh
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

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

mortality/aging

perinatal lethality, complete penetrance ( J:72627 )

• several embryos on the BALB/c background survive to term but die immediately after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:72627 )

• die as early as E13.5, which is 2 days earlier than homozygous Pkd1^tm1Jzh mice, with a peak around E14.5 and E16.5

• Background Sensitivity: all C57BL/6 background embryos succumb by E17.5, while several BALB/c background embryos survive to term but die immediately after birth

growth/size/body

pancreas cyst ( J:72627 )

• pancreatic cysts develop at E13.5, however the cystic dilation of pancreatic ducts progresses more rapidly than in homozygous Pkd1^tm1Jzh mice

polycystic kidney ( J:72627 )

• cyst formation becomes evident at E15.5

• have larger and more renal cysts than homozygous Pkd1^tm1Jzh mice

• Background Sensitivity: progression of polycystic kidneys is milder on the BALB/c background than on the C57BL/6 background, such that the lesions seen at the newborn stage in the BALB/c background are similar to those seen at E17.5 in the C57BL/6 background

disproportionate dwarf ( J:72627 )

renal/urinary system

polycystic kidney ( J:72627 )

• cyst formation becomes evident at E15.5

• have larger and more renal cysts than homozygous Pkd1^tm1Jzh mice

• Background Sensitivity: progression of polycystic kidneys is milder on the BALB/c background than on the C57BL/6 background, such that the lesions seen at the newborn stage in the BALB/c background are similar to those seen at E17.5 in the C57BL/6 background

homeostasis/metabolism

hydrops fetalis ( J:72627 )

• systemic edema of the whole embryo starting at E13.5

skin edema ( J:72627 )

• massive subcutaneous edema

polyhydramnios ( J:72627 )

• seen as early as E12.5

nervous system

spina bifida occulta ( J:72627 )

• develops at late embryonic or newborn stages

skeleton

abnormal thyroid cartilage morphology ( J:72627 )

• malformed thyroid cartilage

decreased length of long bones ( J:72627 )

• long bones are shorter and about 1/3 thinner than those of wild-type

abnormal bone marrow cavity morphology ( J:72627 )

• E17.5 bone marrow cavity is formed but is shortened

abnormal skeleton development ( J:72627 )

• skeletal development is retarded at the newborn stage

spina bifida occulta ( J:72627 )

• develops at late embryonic or newborn stages

decreased width of hypertrophic chondrocyte zone ( J:72627 )

• hypertrophic chondrocyte zone is reduced in length at E14.5

chondrodystrophy ( J:72627 )

abnormal bone mineralization ( J:72627 )

• delay in bone mineralization of vertebrae, long bones, and skull, although ossification centers remain

delayed endochondral bone ossification ( J:72627 )

delayed intramembranous bone ossification ( J:72627 )

endocrine/exocrine glands

pancreas cyst ( J:72627 )

• pancreatic cysts develop at E13.5, however the cystic dilation of pancreatic ducts progresses more rapidly than in homozygous Pkd1^tm1Jzh mice

respiratory system

abnormal thyroid cartilage morphology ( J:72627 )

• malformed thyroid cartilage

embryo

spina bifida occulta ( J:72627 )

• develops at late embryonic or newborn stages

integument

skin edema ( J:72627 )

• massive subcutaneous edema

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:72627