Strain Name    : B6.129S6-S1pr2tm1Rlp/Mmnc

Stock Number : 012830-UNC

Gene Information

(provided by MGI)
Allele Symbol: S1pr2tm1Rlp
Name: targeted mutation 1, Richard L Proia
Alteration at locus: Targeted Mutation
Gene Symbol: S1pr2
Name: sphingosine-1-phosphate receptor 2
Chromosome: 9
Alteration at locus: Targeted Mutation
Genetic Alterations:
Neo cassette inserted into the protein coding exon.

Genotype Determination:

ES Cell Line: TC1/TC-1 derived from 129 x C57BL/6 hybrid

Phenotype

Homozygous phenotype: Partial embryonic lethality; hemorrage when combined with S1P3 mtutation.

Heterozygous phenotype: None


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
S1pr2tm1Rlp/S1pr2tm1Rlp
        involves: 129S6/SvEvTac * C57BL/6
  • hearing/vestibular/ear phenotype
    • abnormal stria vascularis morphology (MGI Ref ID J:121165)
      • at P14, the stria vascularis is nearly doubled in thickness
      • as early as 2 weeks, marginal and basal epithelial barrier layers display aberrant cortical actin patterns
      • abnormal stria vascularis vasculature morphology (MGI Ref ID J:121165)
        • at P14, blood vessels within the stria vascularis appear dilated
        • at P30, strial blood vessels are highly dilated and tortuous, possibly due to an unusually high pressure load
      • abnormal strial basal cells (MGI Ref ID J:121165)
        • as early as ~2 weeks of age, homozygotes exhibit disorganization of strial basal cell barriers
      • abnormal strial intermediate cells (MGI Ref ID J:121165)
        • from P31 to 6 months, the stria vascularis displays progressive hyperpigmentation, an indicator of damage and altered function of intermediate cells
      • abnormal strial marginal cells (MGI Ref ID J:121165)
        • as early as ~2 weeks of age, homozygotes exhibit disorganization of strial marginal cell barriers, with both multinuclear and anuclear marginal cells of heterogeneous sizes
    • abnormal vestibular labyrinth (MGI Ref ID J:121165)
      • bilateral absence of normal with the presence of few enlarged utricular otoconia indicates perturbed ionic composition of the vestibular labyrinth fluids
    • absent brainstem auditory evoked potential (MGI Ref ID J:121165)
      • at o ne month of age, homozygotes totally lack characteristic ABR waveforms at intensities of 100 db of SPL in response to all test stimuli (click, 8, 16, and 32 kHz)
    • absent distortion product otoacoustic emissions (MGI Ref ID J:121165)
      • at 1 and 3 months of age, homozygotes display no measurable DPOAEs
    • cochlear hair cell degeneration (MGI Ref ID J:121165)
      • although relatively normal at P14 and only mildly affected by P17-21, cochlear hair cells display a base-to-apex degeneration by P31, which is more severe in the basal turn and milder in the middle and apical turns
      • cochlear hair cell degeneration precedes loss of spiral ganglion neurons
    • deafness (MGI Ref ID J:121165)
      • at ~3 weeks of age, homozygotes are profoundly deaf
    • decreased otolith number (MGI Ref ID J:121165)
      • at P7, utricular otoconia are largely absent in both ears
      • in contrast, saccular otoconia remain normal
    • enlarged otoliths (MGI Ref ID J:121165)
      • at P7, the few utricular otoconia remaining in mutant ears are enlarged
    • organ of Corti degeneration (MGI Ref ID J:121165)
      • by P31, homozygotes display a progressive degeneration in the organ of Corti which is prominent at later times (P120)
  • nervous system phenotype
    • cochlear ganglion degeneration (MGI Ref ID J:121165)
      • spiral ganglion neurons are present up to P21 but have largely disappeared by 4 months
      • at 6 months, a striking bilateral absence of spiral ganglion neurons is observed
    • cochlear hair cell degeneration (MGI Ref ID J:121165)
      • although relatively normal at P14 and only mildly affected by P17-21, cochlear hair cells display a base-to-apex degeneration by P31, which is more severe in the basal turn and milder in the middle and apical turns
      • cochlear hair cell degeneration precedes loss of spiral ganglion neurons
  • cardiovascular system phenotype
    • cardiovascular system phenotype (MGI Ref ID J:106055)
      • homozygotes show no evidence of embryonic lethality or hemorrhaging; no other analysis done in J:106055
      • abnormal stria vascularis vasculature morphology (MGI Ref ID J:121165)
        • at P14, blood vessels within the stria vascularis appear dilated
        • at P30, strial blood vessels are highly dilated and tortuous, possibly due to an unusually high pressure load
  • pigmentation phenotype
    • abnormal strial intermediate cells (MGI Ref ID J:121165)
      • from P31 to 6 months, the stria vascularis displays progressive hyperpigmentation, an indicator of damage and altered function of intermediate cells
  • behavior/neurological phenotype
    • head tilt (MGI Ref ID J:121165)
      • homozygotes display a head tilt much less frequently relative to mice doubly homozygous for Edg3tm1Rlp and Edg5tm1Rlp
      • notably, adult homozygotes exhibit normal balance and motor function when tested on a rotarod by balance beam walking or in a swimming test




Strain of Origin: 129 X C57BL6

Strain genetic background: C57BL/6

Strain Development: backcrossed to C57BL/6

Strain Genetic Background Validation: A sample from this MMRRC strain was analyzed using the Mouse Universal Genotyping Array (MUGA) and MMRRC computational tools were used to assess the genetic background. A summary of the data can be found here.

MMRRC StrainReference StrainsGenomic makeup (Mb)
Strain Name MMRRC ID # Reference 1 Reference 2 Ref 1 Ref 2 Het Unknown
B6.129S6-S1pr2tm1Rlp/Mmnc MMRRC:012830-UNC C57BL/6J 129S6/SvEvTac 1032 427 1124 0


Suggested Control Mice:

  • Wildtype littermates

  • Cardiovascular
  • Developmental Biology

Donor: Richard L. Proia, Ph.D., NIH, NIDDK

Primary Reference:

Kono M, Mi Y, Liu Y, Sasaki T, Allende ML, Wu YP, Yamashita T, Proia RL. The sphingosine-1-phosphate receptors S1P1, S1P2, and S1P3 function coordinately during embryonic angiogenesis. J Biol Chem. 2004 Jul 9;279(28):29367-73. Epub 2004 May 11. (Medline PMID: 15138255)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc_health@med.unc.edu.

Order Request Information

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.The donor or their institution limits the distribution to non-profit institutions only.
Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.
Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description
Distribution
Fee/unit (US $)
Units Notes
012830-UNC-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
012830-UNC-EMBRYOCryo-preserved embryos
$1,038.00
Non-Profit
Aliquot Approximate quantity3: 20-40 embryos / aliquot

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.