Description

Strain Information

Former Names BKa.129S4-Kitltm1.1Sjm/J    (Changed: 24-FEB-12 ) Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Wild-type x Heterozygote         (Female x Male)   11-APR-13 Mating System Heterozygote x Wild-type         (Female x Male)   11-APR-13 Species laboratory mouse   Donating Investigator Sean J Morrison,   UT Southwestern

Description
An Enhanced Green Fluorescent Protein (EGFP) reporter disrupts expression of Kitl (kit ligand; also called stem cell factor, Scf) in this targeted mutation strain. EGFP is primarily expressed by perivascular endothelial and stromal cells throughout the bone marrow. Homozygotes die perinatally with severe anemia. Kitl transcripts are nearly undetectable by quantitatve RT-PCR in the livers of newborn homozygotes. Overall cellularity of the newborn liver is reduced fivefold in homozygotes and approximately twofold in heterozygotes. Hematopoietic stem cell numbers are reduced about eightfold in the livers of newborn homozygotes as compared with wildtype and heterozygous controls. Heterozygotes have a diluted coat color and often have a white spot on the abdomen.

Development
An EGFP-polyA-Frt-Neo-Frt cassette was introduced to the second exon of the targeted gene via 129S6/SvEvTac-derived W4 embryonic stem (ES) cells. Chimeric mice were bred with C57BL/Ka mice to obtain germline transmission, then bred with C57BL/Ka background mice expressing Flp to excise the neomycin cassette. This strain was backcrossed for 10 generations to C57BL/Ka by the donating laboratory. Upon arrival at The Jackson Laboratory, C57BL/6J was used for rederivation.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Kitl

000090	129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
002993	B6.Cg-KitlSl-18H/EiJ
008656	B6.Cg-KitlSl-gb/MbeJ
000124	B6.Cg-KitlSl Krt71Ca/J
009687	B6.Cg-Tg(KRT14-Kitl*)4XTG2Bjl/J
000160	B6.D2-KitlSl-d/J
014608	B6;129S1-a Kitlsl-24J/GrsrJ
000291	C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001380	C3Sn.Cg-KitlSl-con/J
003252	C57BL/6J-KitlSl-20J/J
000979	STOCK KitlSl-16J/J
017861	STOCK Kitltm2.1Sjm/J
000161	WB.D2-KitlSl-d/J
000693	WC/ReJ KitlSl/J
100401	WCB6F1/J-KitlSl-d/J)F1-KitlSl/KitlSl-d/J
001145	WSB/EiJ

View Strains carrying other alleles of Kitl     (16 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Hyperpigmentation, Familial Progressive, 2; FPH2   (KITLG) Skin/Hair/Eye Pigmentation, Variation In, 7; SHEP7   (KITLG)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Kitl^tm1.1Sjm/Kitl⁺

        BKa.129S6-Kitl^tm1.1Sjm

• liver/biliary system phenotype
• liver hypoplasia
  • 2-fold   (MGI Ref ID J:180431)

Kitl^tm1.1Sjm/Kitl^tm1.1Sjm

        BKa.129S6-Kitl^tm1.1Sjm

• mortality/aging
• complete perinatal lethality   (MGI Ref ID J:180431)
• hematopoietic system phenotype
• abnormal bone marrow cell physiology
  • bone marrow cells used to repopulate irradiated mice exhibit reduced bone marrow-derived cell production   (MGI Ref ID J:180431)
• anemia
  • severe   (MGI Ref ID J:180431)
• decreased hematopoietic cell number
  • 8-fold in the liver   (MGI Ref ID J:180431)
• • decreased erythrocyte cell number   (MGI Ref ID J:180431)
• liver/biliary system phenotype
• liver hypoplasia
  • 5-fold   (MGI Ref ID J:180431)

View Research Applications

Research Applications

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

Cardiovascular Research

Developmental Biology Research
Perinatal Lethality
      Homozygous

Hematological Research
Hematopoietic Defects

Internal/Organ Research
Liver Defects

Research Tools
Fluorescent Proteins
Hematological Research

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Kitltm1.1Sjm
Allele Name		targeted mutation 1.1, Sean J Morrison
Allele Type		Targeted (Reporter)
Common Name(s)		Scfgfp;
Mutation Made By		Sean Morrison,   UT Southwestern
Strain of Origin		129S6/SvEvTac
Site of Expression		EGFP is primarily expressed by perivascular endothelial and stromal cells throughout the bone marrow.
Gene Symbol and Name		Kitl, kit ligand
Chromosome		10
Gene Common Name(s)		Clo; Con; FPH2; Gb; KL-1; MGF; Mgf; SCF; SF; SHEP7; SLF; Sl; Steel; Steel factor; blaze; blz; cloud gray; contrasted; grizzle-belly; mast cell growth factor; steel; stem cell factor;
Molecular Note		A targeting vector was designed to replace exon 2 with EGFP (in frame) and an FRT-flanked neomycin resistance cassette. The neomycin resistance cassette was removed by flp-mediated recombination. qRT-PCR confirmed the absence of transcript expression in the liver. [MGI Ref ID J:180431]

Genotyping

Genotyping Information

Genotyping Protocols

Kitl^tm1.1Sjm,

SEPARATED MELT

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Ding L; Saunders TL; Enikolopov G; Morrison SJ. 2012. Endothelial and perivascular cells maintain haematopoietic stem cells. Nature 481(7382):457-62. [PubMed: 22281595]  [MGI Ref ID J:180431]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	Heterozygous mice are viable and fertile. Homozygotes die perinatally with severe anemia.
Mating System	Wild-type x Heterozygote         (Female x Male)   11-APR-13
	Heterozygote x Wild-type         (Female x Male)   11-APR-13

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

 

This strain is currently Under Development - Now Accepting Orders.
Estimated Available for Distribution Date: 05-AUG-13

Please note: You may now place orders for this strain although it is not yet ready for distribution. Estimated available for distribution dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for distribution depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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