Stock

FESA Number

3362

Strain Name

B6.Cg-Cited2<L247P>/H

Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Chemically Induced Mutation IMSR - unclassified

Attribution

Institution name Depositor / Originator Name
University of Oxford Originator Retained
University of Oxford Depositor Retained

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Cited2<m1H> MGI:5646605 Cited2 MGI:1306784 10

Phenotypic Description

Although the amino acid change occurs in a highly conserved residue, the mutant is homozygous viable and fertile, with no detectable phenotype. In trans to the Knock-out allele, it is viable and phenotypically normal.

Orphanet Disorders

OrphaNet ID Name Url
3 303 Tetralogy of Fallot http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3303
99 105 Atrial septal defect, sinus venosus type http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99105
99 103 Atrial septal defect, ostium secundum type http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99103
99 097 Single ventricular septal defect http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99097
101 063 Situs inversus totalis http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101063

Publications

Orphanet Categories

Rare developmental defect during embryogenesis
Rare surgical cardiac disease

EMMA ID

EM:03112

Genetic Status

Induced

Production Information

ENU-derived mutant

Background Strain Name

C57BL/6J

Background Strain MGI ID

MGI:3028467

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