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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Npr2cn
achondroplasia
MGI:1856702
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Npr2cn/Npr2cn AKR/J MGI:2182597
hm2
Npr2cn/Npr2cn involves: AKR/J MGI:3828048
hm3
Npr2cn/Npr2cn Not Specified MGI:3842177
ht4
Npr2cn/Npr2slw involves: AKR/J * C57BL/6 * DDY MGI:3806088
cx5
Npr2tm2.1(cre/ERT2)Fgr/Npr2cn
Tg(CAG-Bgeo/ALPP)1Lbe/0
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * AKR/J * C57BL/6J MGI:5568088


Genotype
MGI:2182597
hm1
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 (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some die between weaning and 3 months of age from cyanosis
• many die before weaning from malocclusion

cardiovascular system

craniofacial
• bull dog-like appearance due to the domed head and shortened upper jaw
• skull length is reduced to 77% of normal
• skull width is reduced to 95% 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 length is reduced to 77% of normal
• skull width is reduced to 95% 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




Genotype
MGI:3828048
hm2
Allelic
Composition
Npr2cn/Npr2cn
Genetic
Background
involves: AKR/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2cn mutation (2 available); any Npr2 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• a small percentage of sensory axons extend directly towards the central canal unlike in wild-type mice
• the dorsal funiculus is reduced in size compared to in wild-type mice

skeleton
• growth of femora and tibiae is sub-normal in pre-wean homozygotes and growth is severely interupted at weaning, between 21 and 28 days of age, before resuming slow growth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achondroplasia DOID:4480 OMIM:100800
J:26341




Genotype
MGI:3842177
hm3
Allelic
Composition
Npr2cn/Npr2cn
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2cn mutation (2 available); any Npr2 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• endochondral bones are markedly reduced in length but not in width
• disruption of the proximal tibial plate
• Background Sensitivity: modifiers may be responsible for 2 non-overlapping groups of 22 day old mice homozygous mice in a segregating stock; one group with marginal, one with serious disruption of the proximal tibial growth plate
• a larger than normal accumulation of glycogen is seen
• many hypertrophic chondrocytes fail to degenerate

craniofacial
• endochondral bones are markedly reduced in length but not in width




Genotype
MGI:3806088
ht4
Allelic
Composition
Npr2cn/Npr2slw
Genetic
Background
involves: AKR/J * C57BL/6 * DDY
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2cn mutation (2 available); any Npr2 mutation (47 available)
Npr2slw mutation (1 available); any Npr2 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• abnormal endochondral ossification leads to a short-limbed dwarfism in mice confirming the "slw" mutation is an allele of the Npr2 gene locus




Genotype
MGI:5568088
cx5
Allelic
Composition
Npr2tm2.1(cre/ERT2)Fgr/Npr2cn
Tg(CAG-Bgeo/ALPP)1Lbe/0
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * AKR/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2cn mutation (2 available); any Npr2 mutation (47 available)
Npr2tm2.1(cre/ERT2)Fgr mutation (0 available); any Npr2 mutation (47 available)
Tg(CAG-Bgeo/ALPP)1Lbe mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• at E15.5 formation of collaterals by cranial sensory axons is not affected by Npr2 deficiency
• peripheral processes of the ophthalmic branch of the trigeminal nerve are not significantly affected by Npr2 deficiency
• at E12.5 axons from cranial sensory ganglia do not bifurcate at the entry zone to the brainstem
• mice lack axon bifurcation of DRG neurons; axons only exhibit only turns with Npr2 deficiency





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory