1700093K21Rik^b2b3025Clo
Chemically induced Allele Detail

Summary

• Symbol: 1700093K21Rik^b2b3025Clo
• Name: RIKEN cDNA 1700093K21 gene; Bench to Bassinet Program (B2B/CVDC), mutation 3025 Cecilia Lo
• MGI ID: MGI:5618825
• Gene: 1700093K21Rik Location: Chr11:23466203-23471155 bp, - strand Genetic Position: Chr11, 14.32 cM, cytoband A3.3
• Alliance: 1700093K21Rik^b2b3025Clo page

Mutant shows heterotaxy with levocardia but dextrogastria.

Show the 9 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: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to T substitution at coding nucleotide 469 in exon 5 of the cDNA (c.469A>T, NM_026105). This changes the threonine residue to serine at position 157 of the encoded protein (p.T157S). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any 1700093K21Rik Mutation: 18 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Congenital heart defects associated with heterotaxy including dextrocardia and duplicated inferior vena cava (IVC).

Noncardiovascular phenotype: Abnormal thoracic and abdominal visceral organ situs anomalies, such as dextrogastria. Also observed was malaligned sternal vertebrae.

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 Codes	Code Description
110	Dextrocardia
190	Heterotaxy Syndrome
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4907	Non-cardiac thoracic abnormality

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)