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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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• many die before weaning from malocclusion (J:5109)
• many die before weaning from malocclusion (J:5109)
• some die between weaning and 3 months of age from cyanosis (J:5109)
• some die between weaning and 3 months of age from cyanosis (J:5109)

cardiovascular system

craniofacial
• bull dog-like appearance due to the domed head and shortened upper jaw (J:5109)
• bull dog-like appearance due to the domed head and shortened upper jaw (J:5109)
• skull width is reduced to 95% of normal (J:5109)
• skull width is reduced to 95% of normal (J:5109)
• skull length and width is reduced to 77% and 95%, respectively, of normal (J:5109)
• skull length and width is reduced to 77% and 95%, respectively, of normal (J:5109)
• short nose with a broad transverse depression across the base (J:5109)
• short nose with a broad transverse depression across the base (J:5109)

growth/size/body
• short nose with a broad transverse depression across the base (J:5109)
• short nose with a broad transverse depression across the base (J:5109)
• square rumped (J:5109)
• square rumped (J:5109)
• organ weights at 17-34 days of age are about 37-60% of normal (J:5109)
• organ weights at 60 days of age are about 56-98% of normal (J:5109)
• organ weights at 17-34 days of age are about 37-60% of normal (J:5109)
• organ weights at 60 days of age are about 56-98% of normal (J:5109)
• at birth, weigh slighly less than controls and adults never attain normal weight (J:5109)
• at birth, weigh slighly less than controls and adults never attain normal weight (J:5109)
• during the first few weeks, growth is greatly retarded (J:5109)
• during the first few weeks, growth is greatly retarded (J:5109)

limbs/digits/tail
• short thick toes (J:5109)
• short thick toes (J:5109)
• tail is reduced to 51% of normal (J:5109)
• tail is reduced to 51% of normal (J:5109)

skeleton
• proliferating cartilage cell columns are shorter (J:5109)
• proliferating cartilage cell columns are shorter (J:5109)
• thinner epiphyseal plate (J:5109)
• thinner epiphyseal plate (J:5109)
• lengths of limb bones are 60 to 72% of normal (J:5109)
• lengths of limb bones are 60 to 72% of normal (J:5109)
• reduced width of scapula (J:5109)
• reduced width of scapula (J:5109)
• short pelvis (J:5109)
• short pelvis (J:5109)
• axial skeleton is reduced to 68% of normal (J:5109)
• axial skeleton is reduced to 68% of normal (J:5109)
• skull width is reduced to 95% of normal (J:5109)
• skull width is reduced to 95% of normal (J:5109)
• skull length and width is reduced to 77% and 95%, respectively, of normal (J:5109)
• skull length and width is reduced to 77% and 95%, respectively, of normal (J:5109)
• primary trabeculae are shorter, less numerous, and not aligned as well as in controls (J:5109)
• primary trabeculae are shorter, less numerous, and not aligned as well as in controls (J:5109)

respiratory system
• short nose with a broad transverse depression across the base (J:5109)
• short nose with a broad transverse depression across the base (J:5109)

homeostasis/metabolism
• some die from cyanosis (J:5109)
• some die from cyanosis (J:5109)

reproductive system
• neither sex breeds well (J:5109)
• neither sex breeds well (J:5109)

hematopoietic system
• spleen size is 37% of normal (J:5109)
• spleen size is 37% of normal (J:5109)

immune system
• spleen size is 37% of normal (J:5109)
• spleen size is 37% of normal (J:5109)

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
02/02/2016
MGI 6.02
The Jackson Laboratory