Nphp3^pol
Chemically induced Allele Detail

Summary

• Symbol: Nphp3^pol
• Name: nephronophthisis 3 (adolescent); polly
• MGI ID: MGI:3847130
• Gene: Nphp3 Location: Chr9:103879743-103921010 bp, + strand Genetic Position: Chr9, 56.11 cM
• Alliance: Nphp3^pol page

Mutation origin

• Strain of Origin: C57BL/6JSfdAnu
• Project Collection: APF ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation comprises a T to A transversion at nucleotide position 1319, resulting in replacement of valine by glutamic acid. (J:104190) Additional incidental mutations were detected in sequencing for the causative mutation, Nphp3^pol, and may be present in stocks carrying this mutation.
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Nphp3^pol/Nphp3^pol	C57BL/6JSfdAnu-Nphp3^pol/Anu

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
growth/size/body	√
polycystic kidney	√
enlarged kidney	√
homeostasis/metabolism	√
increased blood urea nitrogen level	√
immune system	√
kidney inflammation	√
mortality/aging	√
postnatal lethality	√
nervous system	√
exencephaly	√
renal/urinary system	√
polycystic kidney	√
enlarged kidney	√
kidney inflammation	√
renal fibrosis	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Nphp3 Mutation: 77 strains or lines available

References

• Original: J:104190 The Australian Phenomics Facility at The Australian National University, Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University. MGI Direct Data Submission. 2006-2014
• All: 1 reference(s)