Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names BALB/c-Fechm1Pas/J    (Changed: 13-MAR-08 ) Type Chemically Induced Mutation; Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse   Donating Investigator Xavier Montagutelli,   Institut Pasteur

Appearance
albino
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c

Description
Homozygous mutants are recognizable by the intense yellow color of their sera, gross bilirubinemia, and, especially in albino mice, jaundice. Photosensitivity is evidenced by the appearance of inflammatory skin lesions, often becoming ulcerous, under standard mouseroom conditions (fluorescent light). Mutants do not differ from their normal littermates in body size or weight, nor are they retarded in growth. They exhibit hepatomegaly and splenomegaly, leading to enlarged abdomens after several months of age. Although mutants are not anemic at one month old, normocytic anemia develops with age.

Control Information

	Control
	000651 BALB/cJ
Considerations for Choosing Controls

Additional Web Information

Congenic Nomenclature
JAX Communication, No. 1. A Mouse Model for Erythropoietic Protoporphyria

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Protoporphyria, Erythropoietic - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Fech^m1Pas/Fech^m1Pas

        involves: 129/Sv * BALB/c

• homeostasis/metabolism phenotype
• abnormal circulating enzyme level (MGI Ref ID J:2021)
  • transaminase activity in the serum is increased
• increased circulating alkaline phosphatase level (MGI Ref ID J:2021)
  • alkaline phosphatase activity in the serum is elevated almost 10-fold
• increased circulating bilirubin level (MGI Ref ID J:2021)
  • mice are recognizable by the intense yellow color of their sera and gross bilirubinemia
  • conjugated and total bilirubin levels in the blood are about 40-fold higher than in controls
• increased porphyrin level (MGI Ref ID J:2021)
  • porphyrin levels in erythrocytes, plasma, liver, and feces are extremely elevated
• hematopoietic system phenotype
• abnormal erythrocyte lysis (MGI Ref ID J:2021)
  • osmotic fragility of erthrocytes is slightly decreased with half the cells lysing at 0.46% saline compared to 0.53% for controls
• abnormal erythropoiesis (MGI Ref ID J:2021)
  • ferrochelastase activity, important in the synthesis of hemoglobulin, is less the 7% of normal in the spleen, liver, and kidney
• abnormal erythrocyte morphology (MGI Ref ID J:2021)
  • polychromatophilia, anisocytosis, target cells and leptocytes are noted in blood smears from these mice
  • the red cell volume distribution width is 34.9 compared to 21.6 in controls
• anisocytosis (MGI Ref ID J:2021)
  • is noted in blood smears
• decreased erythrocyte cell number (MGI Ref ID J:2021)
  • red blood cell count is reduced by almost a third compared to controls
• polychromatophilia (MGI Ref ID J:2021)
  • is noted in blood smears
• decreased hematocrit (MGI Ref ID J:2021)
  • hematocrit is reduced by around 25% compared to controls
• decreased hemoglobin content (MGI Ref ID J:2021)
  • hemoglobulin content is decreased by almost a third compared to controls
• hypochromic anemia (MGI Ref ID J:2021)
  • mice 3 to 5 months of age have a normocytic, slightly hypochromatic anemia with a reduction in the number of red blood cells and in total hemoglobulin content
• reticulocytosis (MGI Ref ID J:2021)
  • the percentage of reticulocytes found in the blood is four-fold higher than in controls
• increased spleen weight (MGI Ref ID J:2021)
  • spleen-to-body weight ratio is significantly increased compared to controls by 15 days of age
• liver/biliary system phenotype
• increased liver weight (MGI Ref ID J:2021)
  • liver-to-body weight ratio is significantly higher compared to controls by 15 days of age
• jaundice (MGI Ref ID J:2021)
  • jaundice is usually apparent and is most severe in pups and young adults
• growth/size phenotype
• distended abdomen (MGI Ref ID J:2021)
  • enlarged liver and spleens leads to a distended abdomen by several months of age
• reproductive system phenotype
• reduced fertility (MGI Ref ID J:2021)
  • mice have reduced fertility likely due to the poor health of the mice
• behavior/neurological phenotype
• hypoactivity (MGI Ref ID J:2021)
  • mice exhibit hypoactivity by several months of age
• adipose tissue phenotype
• decreased adipose tissue amount (MGI Ref ID J:2021)
  • mice have decreased fatty tissue by several months of age
• skin/coat/nails phenotype
• skin photosensitivity (MGI Ref ID J:2021)
  • inflammatory lesions appear on ear and backs from fluorescent lighting used in standard housing conditions
• immune system phenotype
• increased spleen weight (MGI Ref ID J:2021)
  • spleen-to-body weight ratio is significantly increased compared to controls by 15 days of age

View Research Applications

Research Applications

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

Fech^m1Pas related

Cancer Research
Increased Tumor Incidence (Hepatomas)

Dermatology Research
Other (Photosensitization)

Hematological Research
Anemia, Iron Deficiency and Transport Defects
Hematopoietic Defects
Hemoglobin Defects

Internal/Organ Research
Liver Defects
Other (gallstones, jaundice)
Spleen Defects

Mouse/Human Gene Homologs
erytropoietic protoporphyria

Research Tools
Dermatology Research
Hematological Research

Genes & Alleles

Gene & Allele Information

Allele Symbol		Fechm1Pas
Allele Name		ferrochelatase deficiency, mutation 1, Institut Pasteur
Allele Type		Chemically induced (ENU)
Common Name(s)		fch;
Mutation Made By		Xavier Montagutelli,   Institut Pasteur
Strain of Origin		129/Sv x BALB/c
Gene Symbol and Name		Fech, ferrochelatase
Chromosome		18
Gene Common Name(s)		AI894116; EPP; FCE; Fcl; expressed sequence AI894116; fch;
Molecular Note		This mutation is a T-to-A transversion at position 293, resulting in a methionine to lysine substitution at position 98 of the encoded protein. [MGI Ref ID J:12757]

Genotyping

Genotyping Information

Genotyping Protocols

Fech^m1Pas, PYRO, vers. 2
Fech^m1Pas, REST, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Tutois S; Montagutelli X; Da Silva V; Jouault H; Rouyer-Fessard P; Leroy-Viard K; Guenet JL; Nordmann Y; Beuzard Y; Deybach JC. 1991. Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest 88(5):1730-6. [PubMed: 1939658]  [MGI Ref ID J:2021]

Additional References

Boulechfar S; Lamoril J; Montagutelli X; Guenet JL; Deybach JC; Nordmann Y; Dailey H; Grandchamp B; de Verneuil H. 1993. Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics 16(3):645-8. [PubMed: 8325637]  [MGI Ref ID J:12757]

Fech^m1Pas related

Abitbol M; Bernex F; Puy H; Jouault H; Deybach JC; Guenet JL; Montagutelli X. 2005. A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria. Am J Physiol Gastrointest Liver Physiol 288(6):G1208-16. [PubMed: 15677551]  [MGI Ref ID J:108050]

Bloks V; Plosch T; van Goor H; Roelofsen H; Baller J; Havinga R; Verkade H; van Tol A; Jansen P; Kuipers F. 2001. Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice. J Lipid Res 42(1):41-50. [PubMed: 11160364]  [MGI Ref ID J:67180]

Boulechfar S; Lamoril J; Montagutelli X; Guenet JL; Deybach JC; Nordmann Y; Dailey H; Grandchamp B; de Verneuil H. 1993. Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics 16(3):645-8. [PubMed: 8325637]  [MGI Ref ID J:12757]

Chernova T; Nicotera P; Smith AG. 2006. Heme deficiency is associated with senescence and causes suppression of N-methyl-D-aspartate receptor subunits expression in primary cortical neurons. Mol Pharmacol 69(3):697-705. [PubMed: 16306232]  [MGI Ref ID J:135776]

Davies R; Schuurman A; Barker CR; Clothier B; Chernova T; Higginson FM; Judah DJ; Dinsdale D; Edwards RE; Greaves P; Gant TW; Smith AG. 2005. Hepatic gene expression in protoporphyic fech mice is associated with cholestatic injury but not a marked depletion of the heme regulatory pool. Am J Pathol 166(4):1041-53. [PubMed: 15793285]  [MGI Ref ID J:97078]

Han AP; Fleming MD; Chen JJ. 2005. Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. J Clin Invest 115(6):1562-1570. [PubMed: 15931390]  [MGI Ref ID J:99200]

Libbrecht L; Meerman L; Kuipers F; Roskams T; Desmet V; Jansen P. 2003. Liver pathology and hepatocarcinogenesis in a long-term mouse model of erythropoietic protoporphyria. J Pathol 199(2):191-200. [PubMed: 12533832]  [MGI Ref ID J:81608]

Lyoumi S; Abitbol M; Andrieu V; Henin D; Robert E; Schmitt C; Gouya L; de Verneuil H; Deybach JC; Montagutelli X; Beaumont C; Puy H. 2007. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood 109(2):811-8. [PubMed: 17003376]  [MGI Ref ID J:141509]

Navarro S; Del Hoyo P; Campos Y; Abitbol M; Moran-Jimenez MJ; Garcia-Bravo M; Ochoa P; Grau M; Montagutelli X; Frank J; Garesse R; Arenas J; de Salamanca RE; Fontanellas A. 2005. Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria. Exp Dermatol 14(1):26-33. [PubMed: 15660916]  [MGI Ref ID J:109817]

Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Tian M; Campagna DR; Woodward LS; Justice MJ; Fleming MD. 2008. hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. Blood 112(10):4308-13. [PubMed: 18780836]  [MGI Ref ID J:142791]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	This strain is maintained as homozygous sibling matings. Expected coat color from breeding:Albino
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	000651 BALB/cJ
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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