Nek8^b2b1449Clo
Chemically induced Allele Detail

Summary

• Symbol: Nek8^b2b1449Clo
• Name: NIMA (never in mitosis gene a)-related expressed kinase 8; Bench to Bassinet Program (B2B/CVDC), mutation 1449 Cecilia Lo
• MGI ID: MGI:5317588
• Synonyms: Nek8^Roc, Roc
• Gene: Nek8 Location: Chr11:78056932-78067501 bp, - strand Genetic Position: Chr11, 46.74 cM, cytoband B5
• Alliance: Nek8^b2b1449Clo page

Heterotaxy indicated by levocardia, dual IVC and dextrogastria

Show the 8 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 C substitution at coding nucleotide 371 in exon 3 of the cDNA (c.371T>C, NM_080849). This changes the isoleucine residue to threonine at position 124 of the encoded protein (p.I124T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Nek8^b2b1449Clo, and may be present in stocks carrying this mutation.

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 Nek8 Mutation: 28 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defects: Heterotaxy with congenital heart disease such as hypoplastic right ventricle (RV) with small tricuspid valve. Mutants exhibit normal airway cilia motility.

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
0190	Heterotaxy syndrome
1821	Hypoplastic right ventricle (subnormal cavity volume)
3804	Congenital heart disease

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)