Phenotypes Associated with This Genotype

Genotype
MGI:5301335

• Allelic Composition: B9d1^{tm1a(EUCOMM)Wtsi}/B9d1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N * CD-1
• Cell Lines: EPD0060_2_H09

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

mortality/aging

perinatal lethality, complete penetrance ( J:178421 )

• mice die between E17.5 and P1

lethality throughout fetal growth and development, incomplete penetrance ( J:178421 )

• mice die between E17.5 and P1

renal/urinary system

abnormal kidney morphology ( J:178421 )

• at E18.5, kidneys exhibit dilation and cystic pathology in multiple nephrons segments unlike wild-type mice

abnormal renal tubule epithelial cell primary cilium morphology ( J:178421 )

• reduced cilia at E18.5

polycystic kidney ( J:178421 )

• at E18.5

enlarged kidney ( J:178421 )

• at E18.5

renal tubule hypertrophy ( J:178421 )

• at E18.5

dilated nephron ( J:178421 )

• at E18.5

liver/biliary system

abnormal bile duct development ( J:178421 )

• ductal plates persisted as peripheral rings at P1

• however, bile ducts develop cilia

bile duct hyperplasia ( J:178421 )

• at P1

abnormal liver morphology ( J:178421 )

• at P1, hyperplastic portal mesenchyme separate enlarged bile ducts from portal veins unlike in wild-type mice

cardiovascular system

dextrocardia ( J:178421 )

• in 20 of 45 mice

craniofacial

abnormal facial morphology ( J:178421 )

• at E10.5, mice display midline facial defects

vision/eye

microphthalmia ( J:178421 )

• in 32 of 37 mice

endocrine/exocrine glands

abnormal bile duct development ( J:178421 )

• ductal plates persisted as peripheral rings at P1

• however, bile ducts develop cilia

bile duct hyperplasia ( J:178421 )

• at P1

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:178421 )

• reduced cilia at E18.5

growth/size/body

abnormal facial morphology ( J:178421 )

• at E10.5, mice display midline facial defects

polycystic kidney ( J:178421 )

• at E18.5

enlarged kidney ( J:178421 )

• at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:178421