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Genes & Alleles

Abcb7;   Abcb7tm1Mdf;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Targeted Mutation Mating System Homozygote x Hemizygote         (Female x Male) Species laboratory mouse Donating Investigator Mark Fleming,   Children's Hospital Boston Generation N10F?+2pN1F3 (06-AUG-08)

Strain Description
Homozygous mice are viable and fertile with no reported neurological or hematological abnormalities. These mutant mice have loxP sites flanking exons 9 and 10 of the endogenous gene. When bred to Cre recombinase expressing mice, exons 9 and 10 are deleted in the offspring dependent on the tissue specificity of the Cre recombinase expressing parent. The donating investigator reports that the null allele is not transmissible due to an effect on the extraembryonic tissues. This mutant may be useful in studying cytosolic Fe-S cluster assembly and metabolism, Friedreich ataxia, anemia, and hematopoiesis.

When bred to a strain expressing Cre recombinase in liver (see Stock No. 003574 for example), this mutant mouse strain may be useful in studies of hepatocyte iron metabolism.

When bred to a strain expressing Cre recombinase in epiblast derived cells (see Stock No. 004783, 008454 for example), this mutant mouse strain may be useful in development studies.

Strain Development
A targeting vector was designed to insert a loxP site into intron 8 and a loxP-flanked neomycin resistance cassette into intron 10 of the X-linked endogenous gene. The construct was electroporated into the 129S4/SvJae-derived J1 embryonic stem (ES) cells which were transiently transfected with a Cre recombinase vector to remove the selection cassette. Correctly targeted ES cells (with loxP sites flanking exons 9 and 10) were injected into blastocysts and the resulting chimeric mice were bred to C57BL/6J to establish the colony. Mutant mice were backcrossed to C57BL/6J mice for 10 generations prior to arrival at The Jackson Laboratory.

Mammalian Phenotype Terms assigned by genotype The following phenotype relates to a compound genotype created using this strain. Contact JAX® Services jaxservices@jax.org for customized breeding options. Abcb7tm1Mdf/Abcb7+ Tg(Sox2-cre)1Amc/0         either: B6.Cg-Abcb7tm1Mdf Tg(Sox2-cre)1Amc or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)   (conditional) life span-post-weaning/aging *normal* life span-post-weaning/aging (MGI Ref ID J:106838) females are viable Abcb7tm1Mdf/Y Tg(Alb-cre)21Mgn/0         either: B6.Cg-Abcb7tm1Mdf Tg(Alb-cre)21Mgn or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA)   (conditional) liver/biliary system phenotype abnormal liver morphology (MGI Ref ID J:106838) mild hepatic architectural disarray and hepatocellular multinucleation are seen abnormal hepatocyte morphology (MGI Ref ID J:106838) many cytosolic lipid droplets and pale swollen mitochondria are seen suggesting metabolic or mitochondrial damage multinucleated hepatocytes are seen homeostasis/metabolism phenotype abnormal enzyme/ coenzyme level (MGI Ref ID J:106838) 2-fold increase in serum levels of liver-derived transaminases indicative of liver damage abnormal enzyme/coenzyme activity (MGI Ref ID J:106838) 50% reduction in hepatic activity of xanthine oxidase; however no change in expression is detected about a 20% decrease in hepatic mitochondrial activity of succinate dehydrogenase when normalized to cytochrome C oxidase activity about a 90% and 60% decrease in cytosolic aconitate hydratase 1 (Aco1) activity and protein, respectivly, are seen in the liver hemosiderosis (MGI Ref ID J:106838) 76% increase in total liver iron; however, serum iron and total iron binding capacity are similar to controls and no signs of mitochondrial iron overload are detected a small subset of hepatocytes particularly cells adjacent to a portal triad or central vein, contain abundant, coarsely granular cytosolic iron deposits Abcb7tm1Mdf/Y Tg(Sox2-cre)1Amc/0         either: B6.Cg-Abcb7tm1Mdf Tg(Sox2-cre)1Amc or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)   (conditional) lethality-prenatal/perinatal embryonic lethality before turning of embryo (MGI Ref ID J:106838) die at E7.5 - E8.5

Gene & Allele Details

Allele Symbol		Abcb7tm1Mdf
Allele Name		targeted mutation 1, Mark D Fleming
Mutation Made By		Mark Fleming,   Children's Hospital Boston
Strain of Origin		129S4/SvJae
ES Cell Line Name		J1
ES Cell Line Strain		129S4/SvJae
Gene Symbol and Name		Abcb7, ATP-binding cassette, sub-family B (MDR/TAP), member 7
Chromosome		X
Gene Common Name(s)		AA517758; ABC7; ASAT; ATP-binding cassette 7; AU019072; Abc7; Atm1p; EST140535; expressed sequence AA517758; expressed sequence AU019072;
Molecular Note		LoxP sites were inserted into the locus to flank exons 9 and 10. Transient cre expression removed a neomycin resistance cassette included in the vector. [MGI Ref ID J:106838]

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Genotyping Protocols

Abcb7^tm1Mdf

Colony Maintenance

Breeding & Husbandry	The targeted gene is on the X chromosome. When maintaining a live colony, homozygous females are bred to hemizygous males.
Diet Information	LabDiet® 5K52/5K67

Additional Web Information

Congenic Nomenclature
Cre-lox or FLP-FRT Systems

Animal Health Reports

Room Number           AX11

Research Applications

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

Hematological Research
Anemia, Iron Deficiency and Transport Defects
Anemia, Iron Homeostasis Defects

Neurobiology Research
Ataxia (Movement) Defects

Research Tools
Cardiovascular Research (Cre-lox System)
Cre-lox System (loxP-flanked Sequences)
Developmental Biology Research (Cre-lox System)
Hematological Research
Neurobiology Research

References

Selected Reference(s)

Clarke SL; Vasanthakumar A; Anderson SA; Pondarre C; Koh CM; Deck KM; Pitula JS; Epstein CJ; Fleming MD; Eisenstein RS. 2006. Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. EMBO J 25(3):544-53. [PubMed: 16424901]  [MGI Ref ID J:105934]

Additional References

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Price and Supply Information

Strain Name:	B6.129S4-Abcb7tm1Mdf/J
Stock Number:	006490

Price Details

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Supply Details

Standard Supply	Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes	Usually shipped between four and eight weeks of age. This strain is included in the Induced Mutant Resource Colony collection.
Licensing	See General Terms and Conditions below for Licensing and Use Restrictions
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.

For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

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.

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