Sc5d^b2b3462Clo
Chemically induced Allele Detail

Summary

• Symbol: Sc5d^b2b3462Clo
• Name: sterol-C5-desaturase; Bench to Bassinet Program (B2B/CVDC), mutation 3462 Cecilia Lo
• MGI ID: MGI:5648222
• Gene: Sc5d Location: Chr9:42162891-42175552 bp, - strand Genetic Position: Chr9, 23.57 cM, cytoband B
• Alliance: Sc5d^b2b3462Clo page

3462-004-NA mutant exhibits hypoplastic right ventricle as seen by episcopic confocal microscopy.

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 an A to G substitution at nucleotide +4 following coding nucleotide 343 (c.343+4A>G, NM_172769) of intron 4. This may affect splicing from the nearby splice donor site. (J:175213)

Expression

In Structures Affected by this Mutation:

4 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 Sc5d Mutation: 17 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Hypoplastic right ventricle

Noncardiovascular phenotype: Micrognathia, bilateral kidney agenesis, hoof-like hindlimbs and syndactyly on the forelimb

Phenotypic Similarity to Human Syndrome:
Optiz Lemmli Syndrome

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: 3 reference(s)