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Allele : Pskh1<b2b1230Clo> protein serine kinase H1; Bench to Bassinet Program (B2B/CVDC), mutation 1230 Cecilia Lo
Primary Identifier  MGI:5311390 Allele Type  Chemically induced (ENU)
Gene  Pskh1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Heterotaxy, double outlet right ventricle (DORV), situs inversus totalis
Non-Cardiovascular defects: Lung isomerism

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
0100 Situs inversus totalis
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
4238 Bronchial isomerism

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 656 in exon 2 of the cDNA (c.656T>C, NM_173432). this changes the leucine residue to proline at position 219 of the encoded protein (p.L219P).
  • mutations:
  • Single point mutation
  • synonyms:
  • Cannonball,
  • Cannonball
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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

4 Publication categories





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