The C57BL/6J background strain is homozygous for Cdh23^ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset after 10 months of age. The retinal degeneration 1 mutation, Pde6b^rd1, of the PL/J donor strain may still be segregating in this incipient congenic.

Development

The lbab mutation arose spontaneously on the PL/J inbred strain at The Jackson Laboratory in 1996 when that inbred was at generation F171. Because this mutation was difficult to maintain on the PL/J background, it was immediately backcrossed onto C57BL/6J. For the most part, this has been done by breeding heterozygotes with C57BL/6J mates then progeny testing the offspring to identify heterozygotes to continue the backcross. This strain reached F171+N6F1 in 2004.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Ward-Bailey PF; Harris BS; Donahue LR; Bronson R; Johnson KR. 2002. Long bone abnormality (lbab): a new spontaneous mutation causing small size and skeletal abnormalities on Chromosome 1 in the mouse. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine MGI Direct Data SubmissionMGI: J:79175

View All References

Genetics

Nppc^lbab

Allele Symbol: Nppc^lbab

Allele Name	long bone abnormality
Allele Type	Spontaneous
Allele Synonym(s)	lbab
Gene Symbol and Name	Nppc, natriuretic peptide type C
Gene Synonym(s)
Strain of Origin	PL/J
Chromosome	1
Molecular Note	lbab is a spontaneous mutation identified at The Jackson Laboratory. A C-to-G transversion mutation in exon 2 results in the substitution of arginine with glycine at position 117 (p.R117G) in a conserved domain of the encoded protein.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Nppc^lbab related

Research Tools
- Reproductive Biology Research
  - oocyte
Developmental Biology Research
- Growth Defects
  - Growth Defects (homozygous)
- Skeletal Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
  - females only

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Nppc^lbab/Nppc^lbab
involves: PL/J

nervous system phenotype

abnormal sensory neuron innervation pattern
- unlike in wild-type mice, axons entering the spinal cord and turn either in rostral or caudal directions without leaving the funiculus

Genotype: Nppc^lbab/Nppc^lbab
either: (involves: C57BL/6J * PL/J) or PL/J

endocrine/exocrine gland phenotype

small testis
- one month old homozygous males have exceptionally small testes

skeleton phenotype

abnormal long bone epiphyseal plate morphology
- Background Sensitivity - the growth plates are less affected on C57BL/6J than on the original PL/J background
- about 50% of those examined had growth plate abnormalities, while the rest exhibited normal growth plates
- plates; the growth plates are less affected on C57BL/6J than on the original PL/J background

decreased length of long bones

disorganized long bone epiphyseal plate
- of those having abnormalities, some showed disorganization of both femoral and tibial growth plates while others of only the femoral growth plates;

short fibula
- long bones are shorter than normal

short tibia
- long bones are shorter than normal

growth/size/body region phenotype

decreased body size
- overall smaller body size than their littermates; proportionate dwarfing of all organs with the possible exception of the male reproductive tract

disproportionate dwarf
- two mutants examined at 9 weeks of age exhibited a greater long bone: spine proportionality ratio than younger mice, suggesting that the long bones had ceased growing (progressive dwarfism)

limbs/digits/tail phenotype

short fibula
- long bones are shorter than normal

short tibia
- long bones are shorter than normal

short tail
- mutants have proportionately shortened tails

mammalian phenotype

reproductive system phenotype
- Normal - mature mutant males breed, and testes appear by palpation to be of normal size; testis biopsy of a homozygous male revealed normal sperm heads and many sperm tails

reproductive system phenotype

small testis
- one month old homozygous males have exceptionally small testes

References

Ward-Bailey PF; Harris BS; Donahue LR; Bronson R; Johnson KR. 2002. Long bone abnormality (lbab): a new spontaneous mutation causing small size and skeletal abnormalities on Chromosome 1 in the mouse. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine MGI Direct Data SubmissionMGI: J:79175

Additional - Nppc^lbab related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Nppc
- Genotyping resources and troubleshooting
Breeding Considerations

Homozygotes have not been found to breed.
- Additional Breeding and Husbandry Support
Appearance
- black, small
  Related Genotype: a/a lbab/lbab
  
  black, unaffected
  Related Genotype: a/a lbab/+ or a/a +/?
Citation
When using the long bone abnormality mouse strain in a publication, please cite the originating article(s) and include JAX stock #004521 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Nppc<lbab>

Payment Terms and Conditions

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:long bone abnormality

Genetic overview

Research Applications

Base Price

Important Note