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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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die before weaning (J:163374)
• most mice die before weaning (J:163374)
• 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 (J:129973)
• 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 (J:129973)

growth/size/body
• intestine becomes distended with gas (J:163374)
• intestine becomes distended with gas (J:163374)
• mice are significantly shorter starting at 3 days of age (J:129973)
• differences become more obvious as the mice get older (J:129973)
• the average length of adult mice is 70-80% of age-matched wild-type controls (J:129973)
• mice are significantly shorter starting at 3 days of age (J:129973)
• differences become more obvious as the mice get older (J:129973)
• the average length of adult mice is 70-80% of age-matched wild-type controls (J:129973)
• abnormal endochondral ossification leads to a short-limbed dwarfism phenotype (J:129973)
• abnormal endochondral ossification leads to a short-limbed dwarfism phenotype (J:129973)

skeleton
• interparietal bone is slightly larger than wild-type mice (J:129973)
• interparietal bone is slightly larger than wild-type mice (J:129973)
• occurs in adult mice (J:129973)
• occurs in adult mice (J:129973)
• parietal bone is slightly larger than wild-type mice (J:129973)
• parietal bone is slightly larger than wild-type mice (J:129973)
• nasal length is slightly reduced (J:129973)
• nasal length is slightly reduced (J:129973)
• mice have a slightly domed head by 7 days of age (J:129973)
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes (J:129973)
• mice have a slightly domed head by 7 days of age (J:129973)
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes (J:129973)
• the femur and humerus are severely shortened due to improper ossification (J:129973)
• the tibia, fibula, radius and ulna are slightly affected (J:129973)
• at P7, the epiphyseal growth plate is slightly lower with decreased numbers of proliferating and hypertrophic chondrocytes (J:129973)
• the hypertrophic chondrocytes present are smaller in length (J:129973)
• at P21, the growth plate is further reduced in size (J:129973)
• the femur and humerus are severely shortened due to improper ossification (J:129973)
• the tibia, fibula, radius and ulna are slightly affected (J:129973)
• at P7, the epiphyseal growth plate is slightly lower with decreased numbers of proliferating and hypertrophic chondrocytes (J:129973)
• the hypertrophic chondrocytes present are smaller in length (J:129973)
• at P21, the growth plate is further reduced in size (J:129973)
• all skeletal bones formed by endochondral ossification are smaller (J:129973)
• all skeletal bones formed by endochondral ossification are smaller (J:129973)

limbs/digits/tail
• found in mice by 7 days of age (J:129973)
• found in mice by 7 days of age (J:129973)

craniofacial
• interparietal bone is slightly larger than wild-type mice (J:129973)
• interparietal bone is slightly larger than wild-type mice (J:129973)
• occurs in adult mice (J:129973)
• occurs in adult mice (J:129973)
• parietal bone is slightly larger than wild-type mice (J:129973)
• parietal bone is slightly larger than wild-type mice (J:129973)
• nasal length is slightly reduced (J:129973)
• nasal length is slightly reduced (J:129973)
• mice have a slightly domed head by 7 days of age (J:129973)
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes (J:129973)
• mice have a slightly domed head by 7 days of age (J:129973)
• the skulls of adult mice are reduced in size along the anterior-posterior axis but are slightly longer along the other two axes (J:129973)

digestive/alimentary system
• pylorus is markedly narrowed (J:163374)
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction. (J:163374)
• pylorus is markedly narrowed (J:163374)
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction. (J:163374)
• milk is retained in the stomach (J:163374)
• milk is retained in the stomach (J:163374)
• intestine becomes distended with gas (J:163374)
• intestine becomes distended with gas (J:163374)
• intestine becomes distended with gas (J:163374)
• intestine becomes distended with gas (J:163374)

muscle
• pylorus is markedly narrowed (J:163374)
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction. (J:163374)
• pylorus is markedly narrowed (J:163374)
• random smooth muscle alignment unlike controls where smooth muscle fibers align in one direction. (J:163374)
• pylorus and large intestine fail to relax in response to the application oc C-type natriuretic factor (CNP) (J:163374)
• pylorus and large intestine fail to relax in response to the application oc C-type natriuretic factor (CNP) (J:163374)

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory