Strain Name:

129S6.Cg-Sfxn1m1Mdf/Mmjax

Availability:

Cryopreserved - Ready for recovery     Available at the JAX MMRRC

Please refer to the Mutant Mouse Regional Resource Center (MMRRC) for information about 129S6.Cg-Sfxn1m1Mdf/Mmjax MMRRC Stock Number 036656.
It has not been conclusively determined if f is an allele of Sfxn1, for this reason we have renamed the allele identified by Dr. Fleming from f to Sfxn1m1Mdf. The strain currently exhibits a flexed tail phenotype; it is not known if the phenotypic flexed tail will be eliminated when the colony is maintained by genotype rather than phenotype.

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 129S6.Cg-f/Mmjax    (Changed: 09-JUL-12 )
129S6.JE-f/Mmjax    (Changed: 21-JUN-12 )
Type Congenic; Mutant Strain; Spontaneous Mutation;
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
 
Donating Investigator Mark D Fleming,   Children's Hospital Boston

Description
NOTE: It has not been conclusively determined if f is an allele of Sfxn1, for this reason we have renamed the allele identified by Dr. Fleming from f to Sfxn1m1Mdf. The strain currently exhibits a flexed tail phenotype; it is not known if the phenotypic flexed tail will be eliminated when the colony is maintained by genotype rather than phenotype.

That said -- the following describes the flexed tail phenotype --- Mice homozygous for the flexed-tail (f) allele can be identified hematologically as early as embryonic day 13 and are detectably paler than normal by embryonic day 16. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal, but not adult reticulocytes. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating that the prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been found to have embryonic neural tube defects or a dorsal enlargement of the head.

Development
NOTE: It has not been conclusively determined if f is an allele of Sfxn1, for this reason we have renamed the allele identified by Dr. Fleming from f to Sfxn1m1Mdf. The strain currently exhibits a flexed tail phenotype; it is not known if the phenotypic flexed tail will be eliminated when the colony is maintained by genotype rather than phenotype.

The flexed tail (f) mutation arose spontaneously on an undefined mouse stock in the laboratory of Dr. Harrison Hunt at Michigan State College in 1927. The strain has been introgressed into multiple backgrounds including FL/1ReJ, JE/LeJ, and WB. Mapping work done by Dr. Mark Fleming suggests that f is a single base insertion (adenine) in exon 2 of the sideroflexin 1 (Sfxn1) gene, which results in a truncated peptide. Western blot analysis indicates that protein is absent. Concurrently, another group has identified f as a mutation in Smad5. Dr Fleming at Harvard Medical College backcrossed the Sfxn1m1Mdf allele to 129S6/SvEvTac for a minimum of 19 generations.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

        Background Not Specified
  • mortality/aging
  • partial postnatal lethality
    • death rate in the first 3 to 4 weeks after birth is about 4 times normal   (MGI Ref ID J:12951)
  • limbs/digits/tail phenotype
  • caudal vertebral fusion
    • flexure due to unilateral fusions of successive vertebrae   (MGI Ref ID J:13090)
    • first appears around E14   (MGI Ref ID J:13090)
  • kinked tail
    • 1-5 permanent angles in tail   (MGI Ref ID J:12951)
    • sometimes curves and spirals instead of sharp angles   (MGI Ref ID J:12951)
    • tails can occasionally be nearly normal   (MGI Ref ID J:12951)
  • skeleton phenotype
  • abnormal vertebrae morphology   (MGI Ref ID J:13090)
    • abnormal intervertebral disk development
      • abnormal development   (MGI Ref ID J:13090)
      • fibrous pad sometimes fails to develop or does not develop on one side   (MGI Ref ID J:13090)
    • vertebral fusion
      • fusions seen in caudal vertebrae also seen throughout the vertebral column   (MGI Ref ID J:13090)
      • caudal vertebral fusion
        • flexure due to unilateral fusions of successive vertebrae   (MGI Ref ID J:13090)
        • first appears around E14   (MGI Ref ID J:13090)
  • hematopoietic system phenotype
  • abnormal hematopoiesis
    • delayed maturation of committed erythroid stem cells   (MGI Ref ID J:13598)
    • adults with a poor response to hemopoietic stress   (MGI Ref ID J:13598)
    • decreased erythrocyte cell number
      • reduced RBC counts from E14 through birth   (MGI Ref ID J:13090)
      • adult RBC counts are normal   (MGI Ref ID J:13090)
  • anemia   (MGI Ref ID J:12951)
    • anemia at E14 through birth   (MGI Ref ID J:13090)
    • hematopoesis problem in the liver   (MGI Ref ID J:13090)
    • anemia becomes less severe after E16 when hematopoetic function of bone marrow begins   (MGI Ref ID J:13090)
    • recovery from anemia in the first 2 weeks of life   (MGI Ref ID J:13090)
    • hypochromic microcytic anemia
      • transitory hypochromic and microcytic anemia   (MGI Ref ID J:13598)
  • homeostasis/metabolism phenotype
  • abnormal iron homeostasis
    • defective heme synthesis   (MGI Ref ID J:13598)
  • growth/size/body phenotype
  • abnormal head morphology
    • sometimes there is a dorsal enlargement of the head in front of the ears   (MGI Ref ID J:12951)
  • decreased body size
    • smaller size at birth and through adulthood   (MGI Ref ID J:13090)
  • vision/eye phenotype
  • eyelids fail to open
    • one or both eyes sometimes remain closed   (MGI Ref ID J:12951)
  • pigmentation phenotype
  • belly spot   (MGI Ref ID J:13598)
  • embryogenesis phenotype
  • abnormal neural tube morphology/development
    • a minority of homozygotes assessed during embryonic development are found to have irregular lumen shape, longitudinal waves or angles of the tube, or locally doubled neural tube   (MGI Ref ID J:13090)
  • abnormal notochord morphology
    • a minority of homozygotes assessed during embryonic development are found to have ventral swelling of the notochord, dorsal projections, bifurcate notochord, or other morphological abnormalities in the notochord   (MGI Ref ID J:13090)
  • nervous system phenotype
  • abnormal neural tube morphology/development
    • a minority of homozygotes assessed during embryonic development are found to have irregular lumen shape, longitudinal waves or angles of the tube, or locally doubled neural tube   (MGI Ref ID J:13090)
  • integument phenotype
  • belly spot   (MGI Ref ID J:13598)

f/f

        FL/1ReJ
  • hematopoietic system phenotype
  • decreased erythrocyte cell number
    • although red cell counts are significantly reduced at birth they achieve near normal levels by 7 days of age   (MGI Ref ID J:24610)
  • decreased hematocrit
    • at birth the hematocrit is significantly lower (31.5 versus 43.4 in controls) but hematocrit reaches normal levles by 7 days of age   (MGI Ref ID J:24610)
  • decreased mean corpuscular volume
    • significantly smaller volumes at birth but normal by 7 days of age   (MGI Ref ID J:24610)
  • impaired hematopoiesis
    • peak numbers of embryonic erythroid colony forming units only about 50% normal numbers in the liver   (MGI Ref ID J:5654)
  • homeostasis/metabolism phenotype
  • abnormal enzyme/coenzyme activity
    • delta aminolaevulinate synthetase activity in embryonic day 16 reticulocytes on a per cell basis is reduced to 53% of that of wild-type controls, and the activity in liver at embryonic day 13-14 is also reduced but to a lesser degree   (MGI Ref ID J:5591)
    • delta aminolaevulinate dehydratase activity in embryonic day 17-18 reticulocytes on a per cell basis is appriximately half of that in wild-type controls   (MGI Ref ID J:5591)
  • growth/size/body phenotype
  • decreased body weight
    • slight reduction in body weight from birth through 60 days of age in both males and females   (MGI Ref ID J:24610)
  • pigmentation phenotype
  • white spotting
    • white pigment covers an average of 22.9% and 23.6% of the ventrum in females and males respectively   (MGI Ref ID J:24610)
  • integument phenotype
  • white spotting
    • white pigment covers an average of 22.9% and 23.6% of the ventrum in females and males respectively   (MGI Ref ID J:24610)

f/f

        involves: CBA/St
  • mortality/aging
  • partial postnatal lethality
    • early postnatal depletion of homozygous animals   (MGI Ref ID J:164714)
  • hematopoietic system phenotype
  • anemia   (MGI Ref ID J:164714)
    • first evident at embryonic day 12   (MGI Ref ID J:14979)
    • hypochromic anemia
      • although the mean red blood cell size is normal, the hemoglobin concentration is reduced, there are fewer red blood cells and this transitory anemia is most significant embryonically and at birth then wanes during the first few weeks of life   (MGI Ref ID J:164714)
  • decreased mean corpuscular hemoglobin   (MGI Ref ID J:164714)
  • increased siderocyte number
    • the majority of red blood cells in newborns are siderocytes, which are incompletely haemoglobinized as evidenced by faint color and weak stain uptake   (MGI Ref ID J:14979)
    • the percentage of siderocytes decreases from 80% at birth to approximately 40% at 1 week of age and stabilizes at approximately 3% by 3 weeks of age persisting at this higher than normal level in the adult   (MGI Ref ID J:14979)
  • reticulocytosis
    • striking reticulocytosis at birth and reticulocyte count remains high at 13 days of age but decreases by 3 weeks of age as the anemia resolves   (MGI Ref ID J:164714)
  • integument phenotype
  • pallor
    • homozygotes are recognizably paler than normal from embryonic day 16 onward and most can be identified this way as early as embryonic day 15   (MGI Ref ID J:14979)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Sfxn1m1Mdf
Allele Name mutation 1, Mark Fleming
Allele Type Spontaneous
Common Name(s) f;
Gene Symbol and Name Sfxn1, sideroflexin 1
Chromosome 13
Gene Common Name(s) 2810002O05Rik; A930015P12Rik; RIKEN cDNA 2810002O05 gene; RIKEN cDNA A930015P12 gene;
General Note This allele is on of two suggested as responsible for the flexed tail mutation (f). J:128616 suggests that a Smad5 splicing defect (mutation in a polyT element in intron 4) may be causative of flexed tail.
Molecular Note An insertion of a single A residue after codon 15 of the reading frame. This mutation is predicted to result in a truncated protein consisting of the first 15 amino acids followed by 17 novel amino acids before an in-frame stop codon. [MGI Ref ID J:68377]

Genotyping

Genotyping Information

Genotyping Protocols

Cg-f-PYRO, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Fleming MD; Campagna DR; Haslett JN; Trenor CC 3rd; Andrews NC. 2001. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev 15(6):652-7. [PubMed: 11274051]  [MGI Ref ID J:68377]

Additional References

Sfxn1m1Mdf related

Hegde S; Lenox LE; Lariviere A; Porayette P; Perry JM; Yon M; Paulson RF. 2007. An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5. Mamm Genome 18(12):852-60. [PubMed: 18060457]  [MGI Ref ID J:128616]

Mutant Mouse Regional Resource Centers. 2004. Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC) Unpublished :.  [MGI Ref ID J:94077]

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

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryThe donating investigator maintains this as a backcross/intercross (hom x 129S6, het x het) mating.

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