Strain Name:
C57BL/6J-Lpin120884 Nrcam20884/Mmjax
Stock Number:
032029-JAX
Citation ID:
RRID:MMRRC_032029-JAX

Gene Information

Lpin120884
Name: lipin 1; 20884
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Chemically Induced
Nrcam20884
Name: neuronal cell adhesion molecule; 20884
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Chemically Induced
Nrcam
Name: neuronal cell adhesion molecule
Synonyms: Bravo, C030017F07Rik, C130076O07Rik
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Chemically Induced
NCBI: 319504
VEGA: 12
HGNC: HGNC:7994
Homologene: 21041
Lpin1
Name: lipin 1
Synonyms: Lipin1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Chemically Induced
NCBI: 14245
VEGA: 12
Homologene: 9266
Genetic Alterations
Lpin1 allele: T-to-A substitution in exon 20 resulting in a tyrosine-to-asparagine missense mutation (Y873N).
Nrcam allele: C-to-T substitution in exon 36 resulting in a premature stop codon (Q1033*)

HGVS nomenclature:
  • Lpin1 allele:
  • Nrcam allele:
    • Genbank RefSeq - mRNA: NM_176930.4
    • Genbank RefSeq, protein: NP_795904.3
    • Variant, nucleic acid level: c.3097C>T
    • Variant, amino acid level, predicted: p.(Gln1033*)
      Check this variant: LUMC Mutalyzer
Genotype Determination
Phenotype
Homozygous: The donating investigator reports that homozygous males do not breed and homozygous females fail to care for their pups. These double mutant mice possess a missense mutation in the phosphatidate phosphatase gene, Lpin1, and a nonsense mutation in the neural cell adhesion molecule gene, Nrcam. The two single mutations appear to act synergistically to produce the 20884 phenotype. The ENU20884 mutants exhibit demyelination and aberrant myelin structures, as well as severe electrophysiological abnormalities seen by a reduction in sciatic nerve conduction velocity and compound muscle action potentials. These mice develop a floppy gait leading to hindlimb paralysis, inability of the hindpaws to grip, visibly wasted hindquarter muscles, and the clenching of the hindlimbs to the body when suspended by the tail by 6 or 7 weeks of age. By 1 year of age, these mutants regain the ability to both grip structures and walk, although their gait remains floppy. These mutant mice may be useful in studying neurodegeneration, myelin defects, muscle atrophy, and paralysis.

Heterozygous: Mice heterozygous for this ENU-induced mutation (Lpin120884Nrcam20884), are viable and fertile.
Mammalian Phenotype Terms
Allelic Composition: Lpin120884/Lpin120884 (Genetic Background: involves: C57BL/6J )

Allelic Composition: Lpin120884/Lpin1fld (Genetic Background: involves: BALB/cByJ * C57BL/6J )

Allelic Composition: Nrcam20884/Nrcam20884 (Genetic Background: involves: C57BL/6J )

MeSH Terms
  • Animals
  • Cell Adhesion Molecules/genetics
  • Hindlimb
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Mutation/genetics
  • Nuclear Proteins/genetics
  • Paraplegia/genetics
  • Paraplegia/physiopathology
  • Peripheral Nervous System Diseases/genetics
  • Peripheral Nervous System Diseases/physiopathology
  • Phosphatidate Phosphatase
Strain Development
Following multidose N-ethyl-N-nitrosourea (ENU) treatments to induce mutations in founder C57BL/6J mice, a forward genetic screen was utilized to identify a family of mice, ENU20884, exhibiting adult-onset hindlimb paralysis. Using a candidate gene approach two mutations were identified: the phosphatidate phosphatase gene, Lipin1 (Lpin1), and the neural cell adhesion molecule, neuron-glia-CAM-related cell adhesion molecule (Nrcam) gene. Sequencing of these genes identified variants in Lpin1 and Nrcam. Mice heterozygous for both mutations (Lpin120884Nrcam20884), were bred to littermates or to C57BL/6J mice to maintain a colony prior to arrival at The Jackson Laboratory. Upon arrival, mice were bred to C57BL/6J for at least one generation to establish the colony.
Suggested Control Mice
Wild-type littermates
Donor
Brian Popko, Ph.D., The University of Chicago
Primary Reference
Douglas DS; Moran JL; Bermingham JR Jr; Chen XJ; Brindley DN; Soliven B; Beier DR; Popko B, Concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis., J Neurosci 2009 Sep 30;29(39):12089-100 (Medline PMID: 19793967)

Colony and Husbandry Information

When maintaining a live colony heterozygous double mutant mice may be bred to wild-type mice from the colony or to C57BL/6J. The donating investigator reports that homozygous males do not breed and homozygous females do not care for their young.
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 csmmrrc@jax.org .

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 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.

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
032029-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
032029-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / Non-Profit Litter Recovered litter4; additional fees for any special requests.
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.