Description

Strain Information

Former Names C;STOCK cn/J    (Changed: 20-JUN-05 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation ?+N1F12p (19-DEC-04)

Appearance
albino
Related Genotype: Tyr^c/Tyr^c

Development
cn is a spontaneous mutation that was found in 1960 in the AKR/J colony at The Jackson Laboratory. This mutation was backcrossed three generations to C57BL/6J, then backcrossed four generations to C3H/HeDiSn, then crossed once to AKR/J, then backcrossed two generations to LG/J, then sibling mated heterozygote x heterozygote until F50 before freezing by sibling mating. In 2000, a homozygous female of the STOCK background (stock #000294) was bred via ovarian transplant to a BALB/cByJ male and the offspring have been sibling mated since resulting in stock #003913. This strain was cryopreserved in 2004.

Related Strains

Strains carrying   Npr2^cn allele

000294

STOCK Npr2cn/J

View Strains carrying   Npr2^cn     (1 strain)

Strains carrying other alleles of Npr2

004200

B6;CBACa Aw-J/A-Npr2cn-2J/J

View Strains carrying other alleles of Npr2     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Achondroplasia; ACH - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Npr2^cn/Npr2^cn

        AKR/J

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:5109)
  • many die before weaning from malocclusion
• life span-post-weaning/aging
• premature death (MGI Ref ID J:5109)
  • some die between weaning and 3 months of age from cyanosis
• cardiovascular system phenotype
• abnormal blood circulation (MGI Ref ID J:5109)
• craniofacial phenotype
• abnormal craniofacial morphology (MGI Ref ID J:5109)
  • bull dog-like appearance due to the domed head and shortened upper jaw
• decreased skull width (MGI Ref ID J:5109)
  • skull width is reduced to 95% of normal
• domed skull (MGI Ref ID J:5109)
• malocclusion (MGI Ref ID J:5109)
• short maxilla (MGI Ref ID J:5109)
• small skull (MGI Ref ID J:5109)
  • skull length and width is reduced to 77% and 95%, respectively, of normal
• growth/size phenotype
• abnormal postnatal growth/weight/body size (MGI Ref ID J:5109)
  • square rumped
• abnormal body weight (MGI Ref ID J:5109)
  • organ weights at 17-34 days of age are about 37-60% of normal
  • organ weights at 60 days of age are about 56-98% of normal
• decreased body weight (MGI Ref ID J:5109)
  • at birth, weigh slighly less than controls and adults never attain normal weight
• distended abdomen (MGI Ref ID J:5109)
• postnatal growth retardation (MGI Ref ID J:5109)
  • during the first few weeks, growth is greatly retarded
• limbs/digits/tail phenotype
• brachydactyly (MGI Ref ID J:5109)
  • short thick toes
• decreased length of long bones (MGI Ref ID J:5109)
  • lengths of limb bones are 60 to 72% of normal
• short femur (MGI Ref ID J:5109)
• short humerus (MGI Ref ID J:5109)
• short radius (MGI Ref ID J:5109)
• short tibia (MGI Ref ID J:5109)
• short ulna (MGI Ref ID J:5109)
• short limbs (MGI Ref ID J:5109)
• short tail (MGI Ref ID J:5109)
  • tail is reduced to 51% of normal
• thick tail (MGI Ref ID J:5109)
• skeleton phenotype
• abnormal axial skeleton morphology (MGI Ref ID J:5109)
  • axial skeleton is reduced to 68% of normal
• short vertebral column (MGI Ref ID J:5109)
• abnormal cancellous bone morphology (MGI Ref ID J:5109)
  • primary trabeculae are shorter, less numerous, and not aligned as well as in controls
• abnormal long bone epiphyseal plate morphology (MGI Ref ID J:5109)
• abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
  • proliferating cartilage cell columns are shorter
• decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
  • thinner epiphyseal plate
• decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
• abnormal pelvic girdle bone morphology (MGI Ref ID J:5109)
  • short pelvis
• decreased length of long bones (MGI Ref ID J:5109)
  • lengths of limb bones are 60 to 72% of normal
• short femur (MGI Ref ID J:5109)
• short humerus (MGI Ref ID J:5109)
• short radius (MGI Ref ID J:5109)
• short tibia (MGI Ref ID J:5109)
• short ulna (MGI Ref ID J:5109)
• decreased skull width (MGI Ref ID J:5109)
  • skull width is reduced to 95% of normal
• domed skull (MGI Ref ID J:5109)
• malocclusion (MGI Ref ID J:5109)
• short maxilla (MGI Ref ID J:5109)
• short scapula (MGI Ref ID J:5109)
  • reduced width of scapula
• small skull (MGI Ref ID J:5109)
  • skull length and width is reduced to 77% and 95%, respectively, of normal
• respiratory system phenotype
• abnormal nose morphology (MGI Ref ID J:5109)
  • short nose with a broad transverse depression across the base
• homeostasis/metabolism phenotype
• cyanosis (MGI Ref ID J:5109)
  • some die from cyanosis
• reproductive system phenotype
• reduced fertility (MGI Ref ID J:5109)
  • neither sex breeds well
• hematopoietic system phenotype
• small spleen (MGI Ref ID J:5109)
  • spleen size is 37% of normal
• immune system phenotype
• small spleen (MGI Ref ID J:5109)
  • spleen size is 37% of normal

View Research Applications

Research Applications

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

Npr2^cn related

Developmental Biology Research
Skeletal Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Npr2cn
Allele Name		achondroplasia
Allele Type		Spontaneous
Common Name(s)		cn;
Strain of Origin		AKR/J
Gene Symbol and Name		Npr2, natriuretic peptide receptor 2
Chromosome		4
Gene Common Name(s)		AMDM; ANPRB; GC-B; GUC2B; GUCY2B; NPR-B; NPRB; NPRBi; achondroplasia; cn; guanylyl cyclase-B;
General Note		Pituitary growth hormone in homozygotes is normal in amount. Growth rate is lower than normal during the first 3 weeks, but equal to that of normal littermates from the fourth week on (J:5088). The epiphyseal plates are reduced in thickness and have fewer chondrocytes per capsule (J:5207). In the skull, the endochondral bones of the cranial base are markedly reduced in length, but not in width, and the cartilage of the condylar process of the mandible is reduced to a lesser extent (J:5849). The cellsand matrix of cartilage of the mutant long bones show no striking histological abnormalities (J:5669) except larger than normal accumulation of glycogen in chondrocytes and failure of many hypertrophic chondrocytes to degenerate (J:15335). These have been interpreted as increased vulnerability of chondrocytes to regressive change (J:5694). Thurston et al. (J:8099) found evidence in their stock for two non-overlapping classes of cn/cn mice distinguishable at 22 days, one with more severe disruption of the proximal tibial growth plate than the other. The cause of the difference is not known. The amount and composition of proteoglycans and collagen are unaffected by Npr2 (J:5881).
Molecular Note		The molecular basis of this mutation is a T to G transversion resulting in a leucine to arginine change in codon 885. [MGI Ref ID J:98753]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Lane PW; Dickie MM. 1968. Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered 59(5):300-8. [PubMed: 5713631]  [MGI Ref ID J:5109]

Npr2^cn related

Bonucci E; Gherardi G; Del Marco A; Nicoletti B; Petrinelli P. 1977. An electron microscope investigation of cartilage and bone in achondroplastic cn/cn) mice J Submicrosc Cytol 9:299-306.  [MGI Ref ID J:15335]

Brewer AK; Johnson DR; Moore WJ. 1977. Further studies on skull growth in achondroplasic (cn) mice. J Embryol Exp Morphol 39:59-70. [PubMed: 886262]  [MGI Ref ID J:5849]

Dickie MM. 1961. Disproportionate dwarfing (achondroplasia) Mouse News Lett 25:36.  [MGI Ref ID J:24731]

Dickie MM. 1960. New mutant - achondroplasia - cn Mouse News Lett 23:34.  [MGI Ref ID J:26341]

Hawes NL; Smith RS; Chang B; Davisson M; Heckenlively JR; John SW. 1999. Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol Vis 5:22. [PubMed: 10493779]  [MGI Ref ID J:59481]

Johnson DR. 1978. The growth of femur and tibia in three genetically distinct chondrodystrophic mutants of the house mouse. J Anat 125(2):267-75. [PubMed: 624676]  [MGI Ref ID J:5934]

Kleinman HK; Pennypacker JP; Brown KS. 1977. Proteoglycan and collagen of achondroplastic (cn/cn) neonatal mouse cartilage. Growth 41(3):171-7. [PubMed: 914051]  [MGI Ref ID J:5881]

Koniukhov BV; Paschin YV. 1967. Experimental study of the achondroplasia gene effects in the mouse. Acta Biol Acad Sci Hung 18(3):285-94. [PubMed: 4234457]  [MGI Ref ID J:5088]

Konyukhov BV; Paschin YV. 1970. Abnormal growth of the body, internal organs and skeleton in the achondroplastic mice. Acta Biol Acad Sci Hung 21(4):347-54. [PubMed: 5518854]  [MGI Ref ID J:5207]

Lane PW. 1973. Achondroplasia (cn). Mouse News Lett 49:33.  [MGI Ref ID J:13636]

Lane PW; Dickie MM. 1968. Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered 59(5):300-8. [PubMed: 5713631]  [MGI Ref ID J:5109]

Miller WA; Flynn-Miller KL. 1976. A chondroplastic, brachymorphic and stubby chondrodystophies in mice. J Comp Pathol 86(3):349-63. [PubMed: 939824]  [MGI Ref ID J:5669]

Silberberg R; Hasler M; Lesker P. 1976. Ultrastructure of articular cartilage of achondroplastic mice. Acta Anat (Basel) 96(2):162-75. [PubMed: 970100]  [MGI Ref ID J:5694]

Sogawa C; Tsuji T; Shinkai Y; Katayama K; Kunieda T. 2007. Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. J Hered 98(6):575-80. [PubMed: 17728275]  [MGI Ref ID J:129973]

Thurston MN; Johnson DR; Kember NF. 1985. Cell kinetics of growth cartilage of achondroplastic (cn) mice. J Anat 140(Pt 3):425-34. [PubMed: 3840788]  [MGI Ref ID J:8099]

Tsuji T; Kunieda T. 2005. A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse. J Biol Chem 280(14):14288-92. [PubMed: 15722353]  [MGI Ref ID J:98753]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection.

General Terms and Conditions

See Terms of Use

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.

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Terms of Use

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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