Home - Australian Phenome Bank

Mouse Strain information

APB ID

7654

Added

08/04/2014

Last Edited

03/01/2023

Strain nomenclature:

C57BL/6-Hbatm1(HBA)Tow Hbbtm2(HBG1,HBB*)Tow Hbbtm3(HBG1,HBB)Tow/MarpApb

Nickname:

Hbbtm2(HBG1,HBB*)Tow

Genetics

Strain Types

Mutant strain

Genetic Details

Targeted knockin

Mode of Inheritance

Dominant

1. Affected Gene Name: hemoglobin alpha chain complex

Chromosome	11
Affected Gene Symbol	Hba
Protein expression of altered gene:	Nil
Genetic alteration of gene:	The Hbatm1(HBA)Tow targeted mutation (hα) was created by replacing the endogenous mouse α-globin gene with a human α-globin gene.
Location on chromosome (bp):	cytoband A
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:96014
Allele Name	hemoglobin alpha chain complex; targeted mutation 1, Timothy Townes
Allele Symbol	Hbatm1(HBA)Tow
MGI Allele Accession ID	MGI:3790755
Allele synonyms:	HbA, Hbahalpha

2. Affected Gene Name: hemoglobin beta chain complex

Chromosome	7
Affected Gene Symbol	Hbb
Protein expression of altered gene:	Nil
Genetic alteration of gene:	The Hbbtm2(HBG1,HBB*)Tow targeted mutation (-1400 γ-βS) was created by replacing the endogenous mouse major and minor β-globin genes with both the human Aγ gene (with 1400 bp of 5' flanking sequence) and the human βS-globin gene (-1400 γ-βS). The βS gene contains an A to T mutation in the sixth codon of the human β-globin gene (resulting in a glutamic acid to valine conversion) that has been linked to sickle cell disease.
Location on chromosome (bp):	Syntenic
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:96020
Allele Name	hemoglobin beta chain complex; targeted mutation 2, Timothy Townes
Allele Symbol	Hbbtm2(HBG1,HBB*)Tow
MGI Allele Accession ID	MGI:3790753
Allele synonyms:	-1400-gamma-betaS, Hbbhbetas, Hbbtm2(HBB*)Tow

3. Affected Gene Name: hemoglobin beta chain complex

Chromosome	7
Affected Gene Symbol	Hbb
Genetic alteration of gene:	In ES cells that were homozygous for Hbatm1(HBA)Tow and Hbbtm2(HBG1,HBB*)Tow the human gamma chain and beta chain containing the sickle cell mutation (an A to T transversion in the sixth codon) were replaced with the human gamma chain, beta chain (lacking the sickle cell mutation) and 383 bp of sequence flanking the gamma chain. Cre-mediated recombination removed the floxed hygro cassette.
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:96020
Allele Name	hemoglobin beta chain complex; targeted mutation 3, Timothy Townes
Allele Symbol	Hbbtm3(HBG1,HBB)Tow
MGI Allele Accession ID	MGI:3790756
Allele synonyms:	-383 gamma-betaA, Hbbtm3(HBB)Tow

Point mutation sequence:

Insertion/Tagging details:

Guide(s) RNA sequence:

Mutant Construction Technique

CRE recombinase-loxP technology

Phenotype

Phenotype Homozygous State

Display sickle cell disease. Mice develop anemia from 3 weeks of age. Lethality occurs at variable rates (after 3 months).

Phenotype Heterozygous State

Normal

Original Genetic Background

C57BL/6

Genetic Background Currently Maintained

C57BL/6

Strain identification

How is this strain characterised?

Genotyping

Suggested existing PCR names:

Hbatm1(HBA)Tow, Standard PCR, Hbbtm2(HBG1,HBB*)Tow/Hbbtm3(HBG1,HBB)Tow Standard PCR

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Other Patent Technologies?

Associated IP rights?

Unknown

Does it Model a Human Condition?

Unknown

Research value of this Strain

High

Applicable Research Areas

Haematology

Keywords

Sickle cell disease
haematology

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 6 mice)

Are live mice available?

Yes

MTA needs to be signed?