Pkd1^b2b1585Clo
Chemically induced Allele Detail

Summary

• Symbol: Pkd1^b2b1585Clo
• Name: polycystin 1, transient receptor potential channel interacting; Bench to Bassinet Program (B2B/CVDC), mutation 1585 Cecilia Lo
• MGI ID: MGI:5438059
• Synonyms: Popcorn
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^b2b1585Clo page

Mutant 1585-003-NA displays highly cystic kidneys

Show the 10 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pkd1^b2b1585Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pkd1 Mutation: 154 strains or lines available

Notes

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

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 3 reference(s)