Strain Name:
C57BL/6J-Sumf1em8Lutzy/Mmjax
Stock Number:
068348-JAX
Citation ID:
RRID:MMRRC_068348-JAX
Other Names:

Sumf1<S153P>

Gene Information

Sumf1em8Lutzy
Name: sulfatase modifying factor 1; endonuclease-mediated mutation 8, Cathy Lutz
Synonyms: Sumf1S153P
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: CRISPR
Sumf1
Name: sulfatase modifying factor 1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: CRISPR
NCBI: 58911
Homologene: 16268
Genetic Alterations
CRISPR/cas9 genome editing was used to introduce a TCT-to-CCT mutation predicting S153P missense as well as two silent mutations, F154F (TTC to TTT) and F156F (TTT to TTC), in exon 3 of the Sumf1 gene on chromosome 6.
HVGS Nomenclature
ES Cell Line
Not applicable
Phenotype
Sumf1 encodes an enzyme responsible for post-translational modification of the active site of sulfatases. The orthologous S155P mutation in humans is associated with multiple sulfatase deficiency (MSD), also known as Austin disease or mucosulfatidosis, a rare lysosomal storage disease. Mice homozygous for the mutation are viable and fertile. As the mice are characterized, the donor will provide updates to the strain description and phenotype data. The creation of this mouse strain was supported in part by The United MSD Foundation.
Strain Development

CRISPR/cas9 genome editing was used to generate this strain at The Jackson Laboratory/MMRRC. Cas9 nuclease and plasmids encoding a signal guide RNA predicting p.Ser153Pro (and two silent mutations to prevent re-cutting) were introduced into the cytoplasm C57BL/6J-derived fertilized eggs with well-recognized pronuclei. Correctly targeted embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6J (RRID:IMSR_JAX:000664) for two successive backcrosses to establish the colony.

Suggested Control Mice
C57BL/6J
  • Cell Biology
  • Metabolism
Donor
Cat Lutz, Ph.D., The Jackson Laboratory.
Primary Reference
Not ready to publish

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross and sib-mating
Generation
N2 (C57BL/6J), F?
Overall Breeding Performance
Undetermined
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
4 Weeks
Average Pups Weaned
Undetermined

Order Request Information

Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at csmmrrc@jax.org for more details.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

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.

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 $)
*Shipping & Handling not included*
Units Notes
068348-JAX-HOM-F
068348-JAX-HOM-M
068348-JAX-HET-F
068348-JAX-HET-M
Homozygous Female
Homozygous Male
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
$218.00 / $218.00
Non-Profit / For-Profit
Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org for more information.

1 The distribution fee covers the expense of rederiving mice from a live mouse; 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 contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 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.

4 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.

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.