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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 (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




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 (9 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 (J:153212)
• a small percentage of sensory axons extend directly towards the central canal unlike in wild-type mice (J:153212)
• the dorsal funiculus is reduced in size compared to in wild-type mice (J:153212)
• the dorsal funiculus is reduced in size compared to in wild-type mice (J:153212)

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 (J:5934)
• 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 (J:5934)




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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• endochondral bones are markedly reduced in length but not in width (J:5849)
• endochondral bones are markedly reduced in length but not in width (J:5849)
• cartilage is reduced (J:5849)
• cartilage is reduced (J:5849)
• disruption of the proximal tibial plate (J:8099)
• 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 (J:8099)
• disruption of the proximal tibial plate (J:8099)
• 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 (J:8099)
• a larger than normal accumulation of glycogen is seen (J:15335)
• many hypertrophic chondrocytes fail to degenerate (J:15335)
• a larger than normal accumulation of glycogen is seen (J:15335)
• many hypertrophic chondrocytes fail to degenerate (J:15335)

craniofacial
• endochondral bones are markedly reduced in length but not in width (J:5849)
• endochondral bones are markedly reduced in length but not in width (J:5849)
• cartilage is reduced (J:5849)
• cartilage is reduced (J:5849)




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 (9 available)
Npr2slw mutation (1 available); any Npr2 mutation (9 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 (J:129973)
• abnormal endochondral ossification leads to a short-limbed dwarfism in mice confirming the "slw" mutation is an allele of the Npr2 gene locus (J:129973)




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 (9 available)
Npr2tm2.1(cre/ERT2)Fgr mutation (0 available); any Npr2 mutation (9 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 (J:205571)
• peripheral processes of the ophthalmic branch of the trigeminal nerve are not significantly affected by Npr2 deficiency (J:205571)
• at E15.5 formation of collaterals by cranial sensory axons is not affected by Npr2 deficiency (J:205571)
• peripheral processes of the ophthalmic branch of the trigeminal nerve are not significantly affected by Npr2 deficiency (J:205571)
• at E12.5 axons from cranial sensory ganglia do not bifurcate at the entry zone to the brainstem (J:205571)
• at E12.5 axons from cranial sensory ganglia do not bifurcate at the entry zone to the brainstem (J:205571)
• mice lack axon bifurcation of DRG neurons; axons only exhibit only turns with Npr2 deficiency (J:205571)
• mice lack axon bifurcation of DRG neurons; axons only exhibit only turns with Npr2 deficiency (J:205571)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory