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Phenotypes Associated with This Genotype
Genotype
MGI:2182597
Allelic
Composition
Npr2cn/Npr2cn
Genetic
Background
AKR/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2cn mutation (2 available); any Npr2 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• many die before weaning from malocclusion
• some die between weaning and 3 months of age from cyanosis

cardiovascular system

craniofacial
• bull dog-like appearance due to the domed head and shortened upper jaw
• skull width is reduced to 95% of normal
• skull length and width is reduced to 77% and 95%, respectively, of normal
• short nose with a broad transverse depression across the base

growth/size/body
• short nose with a broad transverse depression across the base
• 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
• at birth, weigh slighly less than controls and adults never attain normal weight
• during the first few weeks, growth is greatly retarded

limbs/digits/tail
• short thick toes
• tail is reduced to 51% of normal

skeleton
• proliferating cartilage cell columns are shorter
• thinner epiphyseal plate
• lengths of limb bones are 60 to 72% of normal
• reduced width of scapula
• axial skeleton is reduced to 68% of normal
• skull width is reduced to 95% of normal
• skull length and width is reduced to 77% and 95%, respectively, of normal
• primary trabeculae are shorter, less numerous, and not aligned as well as in controls

respiratory system
• short nose with a broad transverse depression across the base

homeostasis/metabolism
• some die from cyanosis

reproductive system
• neither sex breeds well

hematopoietic system
• spleen size is 37% of normal

immune system
• spleen size is 37% of normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Achondroplasia; ACH 100800 J:26341


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory