Phenotypes Associated with This Genotype

Genotype
MGI:4430187

• Allelic Composition: Del(8A4-B3)7H/+
• Genetic Background: involves: 101/H * C3H/HeH

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:123074 )

• only 6 of an expected 32 heterozygotes are recovered in a cross to wild-type mice

growth/size/body

abnormal peritoneum morphology ( J:3564 , J:123074 )

• milky abdomen at birth (J:3564)

• chylous ascites do not persist to adulthood (J:123074)

decreased body size ( J:3564 )

• small body size from 10 days of age on

homeostasis/metabolism

extremity edema ( J:3564 , J:123074 )

• edema of limbs and tail as adults (J:3564)

• hind paw edema persists through adulthood with varying severity (J:123074)

lymphedema ( J:123074 )

• lympedema of the hind paws and of the penis in about 50% of males

chylous ascites ( J:123074 )

• only in newborns

reproductive system

large penis ( J:123074 )

♂ • penis exposed and swollen in 52% of males

renal/urinary system

large penis ( J:123074 )

♂ • penis exposed and swollen in 52% of males

immune system

abnormal lymphatic vessel morphology ( J:123074 )

• lymphatic vessels are reduced in number

• fewer branch points

• blood vessels are normal

• deep lymphartic vessel transport defective although vessels are patent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary lymphedema		DOID:0050580	OMIM:PS153100	J:209628