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Allele : Pkd1<b2b1585Clo> polycystin 1, transient receptor potential channel interacting; Bench to Bassinet Program (B2B/CVDC), mutation 1585 Cecilia Lo
Primary Identifier  MGI:5438059 Allele Type  Chemically induced (ENU)
Gene  Pkd1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Polycystic kidney disease, cystic lungs, short limbs, short snout/micrognathia
Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
4163 Micrognathia
4508 Polycystic kidney disease
7505 Biventricular hypertrophy

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 11084 in exon 38 of the cDNA (c.11084T>A, NM_013630). This changes the isoleucine residue to asparagine at position 3695 of the encoded protein (p.I3695N).
  • mutations:
  • Single point mutation
  • synonyms:
  • Popcorn,
  • Popcorn
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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