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Allele : Nek8<b2b1449Clo> NIMA (never in mitosis gene a)-related expressed kinase 8; Bench to Bassinet Program (B2B/CVDC), mutation 1449 Cecilia Lo
Primary Identifier  MGI:5317588 Allele Type  Chemically induced (ENU)
Gene  Nek8 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Roc,
  • Nek8<Roc>,
  • Roc,
  • Nek8<Roc>
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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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