Phenotypes Associated with This Genotype

Genotype
MGI:6278015

• Allelic Composition: Tg(Actb-Ptma)T12Clwu/Tg(Actb-Ptma)T12Clwu
• Genetic Background: involves: FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:128557 , J:270215 )

• all mice succumb to death about 10 days after birth (J:128557)

growth/size/body

decreased birth weight ( J:128557 )

• birth weight is reduced to about 70% of hemizygous or wild-type mice

polycystic kidney ( J:128557 )

• mice exhibit bilateral diffusely distributed renal cysts

• cysts of newborn mice exclusively occur in the inner cortex and medulla and then predominately develop in the medulla at 10 days of age

• at birth, cysts are localized throughout collecting, distal, and proximal tubular segments, whereas at 10 days, cysts are predominately in collecting and distal tubules, but not in proximal tubules

postnatal growth retardation ( J:128557 )

slow postnatal weight gain ( J:128557 )

• mice gain less weight and are about half the size of controls at 10 days of age

increased kidney weight ( J:128557 )

• relative weight of the kidney is increased, however kidney size is normal

increased liver weight ( J:128557 )

• relative weight of liver is increased

behavior/neurological

abnormal eating behavior ( J:128557 )

• mice are fed very poorly during the first few hours of life

renal/urinary system

polycystic kidney ( J:128557 )

• mice exhibit bilateral diffusely distributed renal cysts

• cysts of newborn mice exclusively occur in the inner cortex and medulla and then predominately develop in the medulla at 10 days of age

• at birth, cysts are localized throughout collecting, distal, and proximal tubular segments, whereas at 10 days, cysts are predominately in collecting and distal tubules, but not in proximal tubules

increased kidney weight ( J:128557 )

• relative weight of the kidney is increased, however kidney size is normal

kidney epithelium hyperplasia ( J:128557 )

renal fibrosis ( J:128557 )

• slight renal fibrosis

• however, liver fibrosis is not seen

homeostasis/metabolism

increased blood urea nitrogen level ( J:128557 )

• blood urea nitrogen (BUN) levels are nearly 3 times higher than those of controls and are about 5 times higher in mutants killed in a moribund state

liver/biliary system

increased liver weight ( J:128557 )

• relative weight of liver is increased

respiratory system

emphysema ( J:128557 , J:270215 )

• emphysematous changes are seen at 10 days of age (J:128557)

• mice spontaneously develop pulmonary emphysema characterized by alveolar airspace enlargement and alveolar wall destruction (J:270215)

• average airspace in 4-fold greater than in wild-type mice (J:270215)

pulmonary fibrosis ( J:128557 )

• slight fibrosis of the lung is seen at 10 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:128557
pulmonary emphysema		DOID:9675	OMIM:130700	J:270215