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Phenotypes Associated with This Genotype
Genotype
MGI:3806086
Allelic
Composition
Npr2slw/Npr2slw
Genetic
Background
involves: C57BL/6 * DDY
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npr2slw mutation (1 available); any Npr2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die before weaning
• lower than expected number of affected individuals are found in litters of heterozygote parents suggesting that some affected individuals die in utero or after birth

growth/size/body
• intestine becomes distended with gas
• mice are significantly shorter starting at 3 days of age
• differences become more obvious as the mice get older
• the average length of adult mice is 70-80% of age-matched wild-type controls
• abnormal endochondral ossification leads to a short-limbed dwarfism phenotype

skeleton
• interparietal bone is slightly larger than wild-type mice
• occurs in adult mice
• parietal bone is slightly larger than wild-type mice
• nasal length is slightly reduced
• mice have a slightly domed head by 7 days of age
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes
• the femur and humerus are severely shortened due to improper ossification
• the tibia, fibula, radius and ulna are slightly affected
• at P7, the epiphyseal growth plate is slightly lower with decreased numbers of proliferating and hypertrophic chondrocytes
• the hypertrophic chondrocytes present are smaller in length
• at P21, the growth plate is further reduced in size
• all skeletal bones formed by endochondral ossification are smaller

limbs/digits/tail
• found in mice by 7 days of age

craniofacial
• interparietal bone is slightly larger than wild-type mice
• occurs in adult mice
• parietal bone is slightly larger than wild-type mice
• nasal length is slightly reduced
• mice have a slightly domed head by 7 days of age
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes

digestive/alimentary system
• pylorus is markedly narrowed
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction.
• milk is retained in the stomach
• intestine becomes distended with gas
• intestine becomes distended with gas

muscle
• pylorus is markedly narrowed
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction.
• pylorus and large intestine fail to relax in response to the application oc C-type natriuretic factor (CNP)

Mouse Models of Human Disease
OMIM ID Ref(s)
Acromesomelic Dysplasia, Maroteaux Type; AMDM 602875 J:129973


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
06/22/2016
MGI 6.04
The Jackson Laboratory