Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm1Rsa
• Allele Name: targeted mutation 1, Richard Sandford
• Allele ID: MGI:2152589
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1Rsa/Pkd1^tm1Rsa	involves: 129S4/SvJaeSor	MGI:2173245
ht2	Pkd1^tm1Rsa/Pkd1^+	involves: 129S4/SvJaeSor	MGI:2173244

Genotype
MGI:2173245

hm1

• Allelic Composition: Pkd1^tm1Rsa/Pkd1^tm1Rsa
• Genetic Background: involves: 129S4/SvJaeSor

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

Abnormal skeletal development in Pkd1^tm1Rsa/Pkd1^tm1Rsa mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:72238 )

• homozygotes die between E13.5 and E14.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:72238 )

• disorganized trabeculae

thin myocardium ( J:72238 )

abnormal conotruncal ridge morphology ( J:72238 )

• the cushion mass forming the outlet septum was dysplatic and appears larger than normal

failure of atrioventricular cushion closure ( J:72238 )

• the atrio-ventricular cushions were not fused and were attached to the atrial aspect of the atrial septum in two homozygotes with double outlet right ventricle

double outlet right ventricle ( J:72238 )

common atrioventricular valve ( J:72238 )

• two homozygotes with double outlet right ventricle also had a common atrio-ventricular junction with the atrial septum fused to the atrial aspect of the unfused atrio-ventricular cushions

atrial septal defect ( J:72238 )

ventricular septal defect ( J:72238 )

hemorrhage ( J:72238 )

• focal hemorrhage

hemopericardium ( J:72238 )

• hemorrhagic pericardial effusion

homeostasis/metabolism

hemopericardium ( J:72238 )

• hemorrhagic pericardial effusion

edema ( J:72238 )

• progressive edema

skeleton

abnormal craniofacial bone morphology ( J:72238 )

• defects were seen in the neural crest-derived tissues of the head

abnormal Meckel's cartilage morphology ( J:72238 )

abnormal radius morphology ( J:72238 )

• the radius is splayed

abnormal ulna morphology ( J:72238 )

• the ulna is splayed

decreased length of long bones ( J:72238 )

• the long bones are shorter and smaller in diameter compared to wild-type mice

abnormal spine curvature ( J:72238 )

• the spines of homozygotes were curved and twisted

abnormal vertebrae morphology ( J:72238 )

• the vertebral structure was disrupted

abnormal cartilage development ( J:72238 )

• cartilage differentiation is delayed

craniofacial

abnormal craniofacial bone morphology ( J:72238 )

• defects were seen in the neural crest-derived tissues of the head

abnormal Meckel's cartilage morphology ( J:72238 )

limbs/digits/tail

abnormal radius morphology ( J:72238 )

• the radius is splayed

abnormal ulna morphology ( J:72238 )

• the ulna is splayed

muscle

abnormal myocardial trabeculae morphology ( J:72238 )

• disorganized trabeculae

thin myocardium ( J:72238 )

Genotype
MGI:2173244

ht2

• Allelic Composition: Pkd1^tm1Rsa/Pkd1⁺
• Genetic Background: involves: 129S4/SvJaeSor

Renal cysts in embryonic and adult kidneys of Pkd1^tm1Rsa/Pkd1⁺ mice

renal/urinary system

kidney cyst ( J:72238 )

• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age

• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age

• cysts are often lined with hyperplastic or apoptotic cells

liver/biliary system

liver cyst ( J:72238 )

• liver cysts are occasionally seen in heterozygotes from 19 months of age

growth/size/body

kidney cyst ( J:72238 )

• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age

• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age

• cysts are often lined with hyperplastic or apoptotic cells

liver cyst ( J:72238 )

• liver cysts are occasionally seen in heterozygotes from 19 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:72238