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Nek8b2b1449Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Nek8b2b1449Clo
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: Nek8Roc, Roc
Gene: Nek8  Location: Chr11:78056932-78067501 bp, - strand  Genetic Position: Chr11, 46.74 cM, cytoband B5
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 detailsThis 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, Nek8b2b1449Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  22 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). 2011-15;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory