Mouse Strain information
APB ID 63
Added 06/02/2006
Last Edited 10/05/2014
Strain name: B6JSfdAnu;NODAnu-Nphp3pol/AnuApb
Nickname: Polly
Strain designation name: B6JSfdAnu;NODAnu-Nphp3pol/AnuApb
Genetics
Strain Types Mutant strain
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: nephronophthisis 3 (adolescent)  
Chromosome 9
Affected Gene Symbol Nphp3
Protein expression of altered gene: Nil
Genetic alteration of gene: ENU induced mutation
Location on chromosome (bp): 103904874-103946060 bp, + strand (From VEGA annotation of NCBI Build 37)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:1921275
Synonyms nephrocystin 3, pcy
Allele Name polly
Allele Symbol Nphp3pol
MGI Allele Accession ID MGI:3847130
Ensembl Gene ID: ENSMUSG00000032558
Transcript ID: ENSMUST00000116516
Transcript name: Nphp3-202
bp change: T to A at position 1496 on cDNA
Exon number: 8
Exon ID: ENSMUSE00000220789
cDNA position: 1496
Amino acid change: Valine to Glutamic acid at position 441
Sequence:
1466CAGAGGGAGTGTGTAAGATTTACGTGGGTGTGGAAAAGATTATTAAACAGGACATCCTTGGcDNA (forward strand)
430A--E--G--V--C--K--I--Y--V--G--V--E--K--I--I--K--Q--D--I--L--Gprotein
Version: NCBI m37, Ensembl build 55
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Juvenile polycystic kidney disease, brain defects: exencephaly. Homozygous mutant mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death.
Original Genetic Background C57BL/6JSfdAnu
Genetic Background Currently Maintained C57BL/6JSfdAnu x NOD
Strain Images
Kidneys isolated from affected individual, left, compared to kidneys isolated from unaffected C57BL/6 sibling, right.
Kidneys isolated from affected individual, left, compared to kidneys isolated from unaffected C57BL/6 sibling, right.
Strain identification
How is this strain characterised? Genotyping
PCR protocols Polly A -D9Mit182 (55cM)
POLLY (amplifluor)
Polly B -D9Mit120 (69cM)
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Unknown
Applicable Research Areas Developmental biology
Keywords
  • kidney
  • exencephaly
  • polycystic
  • juvenile
  • ENU
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 13 mice)

APB stock genotyped verified by: The APF
Are live mice available? No
MTA needs to be signed? Yes


   

 


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