Pskh1^b2b1230Clo
Chemically induced Allele Detail

Summary

• Symbol: Pskh1^b2b1230Clo
• Name: protein serine kinase H1; Bench to Bassinet Program (B2B/CVDC), mutation 1230 Cecilia Lo
• MGI ID: MGI:5311390
• Synonyms: Cannonball
• Gene: Pskh1 Location: Chr8:106627106-106658434 bp, + strand Genetic Position: Chr8, 53.06 cM
• Alliance: Pskh1^b2b1230Clo page

Situs inversus totalis in mutant 1230-007-NA indicated by dextrocardia 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 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pskh1^b2b1230Clo, 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 Pskh1 Mutation: 29 strains or lines available

Notes

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

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: 2 reference(s)