Overview

This Tbc1d32 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Donating Investigator

Cecilia Lo, Univ of Pittsburgh School of Medicine

Genetic overview

Genetic Background	Generation

Tbc1d32^b2b2596Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Tbc1d32	TBC1 domain family, member 32

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Research Applications

Cardiovascular Research
Developmental Biology Research
Internal/Organ Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This C-to-A point mutation in the Tbc1d32 (TBC1 domain family, member 32) gene was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate laterality defects, including PTA (Type A1), overriding aorta, atrioventricular septal defect (AVSD), dual inferior vena cava (IVC), and right atrial isomerism. Excencephaly, craniofacial defect with cleft lip/palate and failure in fusion of the frontonasal prominence, tracheoesophogeal fistula, hypoplastic lungs, eye defects such as anopthalmia and microphthalmia, polydactyly, and cystic/duplex kidneys are also seen.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. The molecular lesion is a C-to-A single point mutation at position 3096 of the cDNA (c.C3096A, NM_001033385) that is predicted to convert a tyrosine residue to a stop codon at position 1032 of the encoded protein (p.Y1032X).

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

View All References

Genetics

Tbc1d32^b2b2596Clo

Allele Symbol: Tbc1d32^b2b2596Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 2596 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Gene Symbol and Name

Tbc1d32, TBC1 domain family, member 32

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

10

General Note

Summative Diagnosis:
Cardiovascular Phenotype (one mutant): PTA (Type A1), overriding aorta, atrioventricular septal defect (AVSD), dual inferior vena cava (IVC), and right atrial isomerism
Noncardiovascular Phenotype: Excencephaly, craniofacial defect with cleft lip/palate and failure in fusion of the frontonasal prominence, tracheoesophogeal fistula, hypoplastic lungs, eye defects such as anopthalmia and microphthalmia, polydactyly, cystic/duplex kidneys

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
0500	Truncus arteriosus
0510	Truncus arteriosus type i
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
2810	Inferior vena cava anomaly
4103	Polydactyly
4134	Skull anomaly, congenital
4163	Micrognathia
4170	Hand and/or foot anomaly
4202	Tracheoesophageal fistula
4401	Cleft palate and cleft lip
4864	Anophthalmia
4875	Cleft lip
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac abnormality

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to A substitution at coding nucleotide 3096 in exon 27 of the cDNA (c.3096C>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 1032 of the encoded protein (p.Y1032*).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Cardiovascular Research
- Vascular Defects
- Heart Abnormalities
Developmental Biology Research
- Craniofacial and Palate Defects
- Eye Defects
- Internal/Organ Defects
  - brain
  - heart
  - heart: vasculature
  - kidney
  - lung
- Skeletal Defects
  - polydactyly
Internal/Organ Research
- Kidney Defects
  - polycystic kidney disease
- Heart Abnormalities
- Lung Defects
Sensorineural Research
- Eye Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Tbc1d32^b2b2596Clo/Tbc1d32^b2b2596Clo
C57BL/6J-Tbc1d32

cardiovascular system phenotype

atrioventricular septal defect

dual inferior vena cava

overriding aortic valve

persistent truncus arteriosis

persistent truncus arteriosus type i

right atrial isomerism

digestive/alimentary phenotype

cleft palate

tracheoesophageal fistula

growth/size/body region phenotype

cleft palate

cleft upper lip

right atrial isomerism

limbs/digits/tail phenotype

polydactyly

nervous system phenotype

exencephaly

renal/urinary system phenotype

duplex kidney

kidney cysts

respiratory system phenotype

pulmonary hypoplasia

tracheoesophageal fistula

vision/eye phenotype

anophthalmia

microphthalmia

craniofacial phenotype

abnormal frontonasal prominence morphology
- failure in fusion of the frontonasal prominence

cleft palate

cleft upper lip

References

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) MGI Direct Data Submission (B2B/CvDC)MGI: J:175213

Additional - Tbc1d32^b2b2596Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Tbc1d32^b2b2596Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #022660 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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General Terms and Conditions

Questions about Terms of Use

Licensing Information

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Tbc1d32b2b2596Clo

Allele Symbol: Tbc1d32b2b2596Clo

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Tbc1d32b2b2596Clo/Tbc1d32b2b2596CloC57BL/6J-Tbc1d32

cardiovascular system phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

nervous system phenotype

renal/urinary system phenotype

respiratory system phenotype

vision/eye phenotype

craniofacial phenotype

References

Additional - Tbc1d32b2b2596Clo related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Tbc1d32^b2b2596Clo

Allele Symbol: Tbc1d32^b2b2596Clo

Genotype: Tbc1d32^b2b2596Clo/Tbc1d32^b2b2596Clo
C57BL/6J-Tbc1d32

Additional - Tbc1d32^b2b2596Clo related