Phenotypes associated with this allele

• Allele Symbol: Nphp3^tm1Cbe
• Allele Name: targeted mutation 1, Carsten Bergmann
• Allele ID: MGI:3809285
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nphp3^tm1Cbe/Nphp3^tm1Cbe	B6.129P2-Nphp3^tm1Cbe	MGI:3809286
ht2	Nphp3^pcy/Nphp3^tm1Cbe	involves: C57BL/6 * CD-1 * KK/Upj	MGI:3809288

Genotype
MGI:3809286

hm1

• Allelic Composition: Nphp3^tm1Cbe/Nphp3^tm1Cbe
• Genetic Background: B6.129P2-Nphp3^tm1Cbe

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

mortality/aging

prenatal lethality, complete penetrance ( J:139258 )

• mid-gestational lethality

embryo

abnormal embryo turning ( J:139258 )

• left sided tail flexion seen in embryos at E9.5 - E12.5 suggest possible inversion or randomization of turning

abnormal left-right axis patterning ( J:139258 )

• at E9.5 - E13.5, some embryos display either situs reversal (15 of 29) or inconsistent situs (6 of 29) arrangements

cardiovascular system

abnormal heart morphology ( J:139258 )

• complex cardiac defects are seen in embryos at E9.5 - E13.5

Genotype
MGI:3809288

ht2

• Allelic Composition: Nphp3^pcy/Nphp3^tm1Cbe
• Genetic Background: involves: C57BL/6 * CD-1 * KK/Upj

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:139258 )

• epithelial cells have longer monocilia in dilated kidney tubules

kidney cyst ( J:139258 )

• seen as early as 4 weeks after birth

• progressive increase in cyst size and number with age

• present in all mice

dilated renal tubule ( J:139258 )

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:139258 )

• epithelial cells have longer monocilia in dilated kidney tubules

growth/size/body

kidney cyst ( J:139258 )

• seen as early as 4 weeks after birth

• progressive increase in cyst size and number with age

• present in all mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis 3		DOID:0111114	OMIM:604387	J:139258