Tbc1d32<b2b3260.1Clo> Chemically induced Allele Detail MGI Mouse (MGI:5648205)

Tbc1d32^b2b3260.1Clo
Chemically induced Allele Detail

Summary

Symbol:	Tbc1d32^b2b3260.1Clo
Name:	TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 3260, subline 1 Cecilia Lo
MGI ID:	MGI:5648205
Gene:	Tbc1d32 Location: Chr10:55890389-56104785 bp, - strand Genetic Position: Chr10, 28.45 cM
Alliance:	Tbc1d32^b2b3260.1Clo page

Mutant 3260-006-2 (E16.5) exhibited an abnormal arrangement of the outflow tracts which was diagnosed as DORV (TOF Type), hypoplastic pulmonary, long right PDA, right aortic arch, and aberrant left subclavian artery by episcopic confocal histopathology

Show the 18 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. It is a subline of b2b3260Clo. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 3100 (c.3100+1G>A, NM_001033385) in intron 27. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). (J:175213)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

6 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 Tbc1d32 Mutation:	58 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Dysplastic semilunar valves, persistent truncus arteriosus (PTA), transposition of the great arteries (TGA)

Noncardiovascular phenotype: short snout, exencephaly, preaxial digit duplication, renal anomalies

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)

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