Strain Name:
B6.129-Mcoln1tm1Asoy/Mmmh
Stock Number:
034789-MU
Citation ID:
RRID:MMRRC_034789-MU

Strain Information

Mcoln1tm1Asoy
Name: mucolipin 1; targeted mutation 1, Abigail Soyombo-Shoola
Synonyms: Trpml1-
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Targeted Mutation
Mcoln1
Name: mucolipin 1
Synonyms: 2210015I05Rik, mucolipidin, TRPML1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Targeted Mutation
NCBI: 94178
Homologene: 10744
Genetic Alterations
A neo cassette flanked by short and long arms of DNA sequences corresponding to the genomic sequences of mouse Trpml1 was inserted by homologous recombination to replace exons 1 and 2 of Trpml1.
Genotype Determination
ES Cell Line
Not specified
Phenotype
Homozygous: Neurodegenerative disease; Achlorhydria; Bladder phenotype at 7-8months. Rear Limb paralysis at 7-8 months. Mouse model of Mucolipidosis Type IV.

Mammalian Phenotype Terms
Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy (Genetic Background: involves: 129 * C57BL/6 )

MeSH Terms
  • Achlorhydria/genetics
  • Achlorhydria/metabolism
  • Achlorhydria/physiopathology
  • Animals
  • Calcium/metabolism
  • Disease Models, Animal
  • Gastric Acid/secretion
  • Gastrins/blood
  • H(+)-K(+)-Exchanging ATPase/metabolism
  • Histamine/metabolism
  • Hypertrophy
  • Lipoylation
  • Lysosomes/metabolism
  • Lysosomes/ultrastructure
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mucolipidoses/genetics
  • Mucolipidoses/metabolism
  • Mucolipidoses/pathology
  • Mucolipidoses/physiopathology
  • Parietal Cells, Gastric/metabolism
  • Parietal Cells, Gastric/secretion
  • Parietal Cells, Gastric/ultrastructure
  • Phosphorylation
  • Protein Transport
  • TRPM Cation Channels/deficiency
  • TRPM Cation Channels/genetics
  • Time Factors
  • Transient Receptor Potential Channels
  • Amino Acid Substitution
  • Calcium Channels/genetics
  • Calcium Channels/metabolism
  • Endosomes/genetics
  • Endosomes/metabolism
  • HEK293 Cells
  • HeLa Cells
  • Humans
  • Lysosomes/genetics
  • Mutation, Missense
  • NADP/analogs & derivatives
  • NADP/genetics
  • NADP/metabolism
  • Pancreas, Exocrine/metabolism
  • TRPM Cation Channels/metabolism
Strain Development
Homologous recombinant ES cell from targeted gene deletion (using a replacement strategy) was injected into C57BL/6 blastocyst to obtain chineric mice which were bred to obtain heterozygotes and bred to obtain homozygotes on a mixed 129/C57BL/6 genetic background. Heterozygotes on a mixed background were backcrossed using WT C57BL/6 males and females for 10 generations over a period of 24 months to obtain the final congenic heterozygote strain.
Suggested Control Mice
  • Wildtype littermates
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
  • Neurobiology
Donor
Abigail Soyombo-Shoola, Ph.D., University of Texas Southwestern Medical Center
Primary Reference
  • Chandra M, Zhou H, Li Q, Muallem S, Hofmann SL, Soyombo AA. A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice. Gastroenterology. 2011 Mar;140(3):857-67. (Medline PMID: 21111738)
  • Yamaguchi S, Jha A, Li Q, Soyombo AA, Dickinson GD, Churamani D, Brailoiu E, Patel S, Muallem S. Transient receptor potential mucolipin 1 (TRPML1) and two-pore channels are functionally independent organellar ion channels. J Biol Chem. 2011 Jul 1;286(26):22934-42. Epub 2011 May 3. (Medline PMID: 21540176)

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@missouri.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.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu 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.

TET-System Technology (tetracycline; US 5,814,618; 5,859,310; 7,541,446; 8,383,364 and European Patent EP 0804565)

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 $)
*Shipping & Handling not included*
Units Notes
034789-MU-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
034789-MU-RESUS Litter recovered from cryo-archive $2,624.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu 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.