Phenotypes Associated with This Genotype

Genotype
MGI:2182597

hm1

• Allelic Composition: Npr2^cn/Npr2^cn
• Genetic Background: AKR/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:5109 )

• some die between weaning and 3 months of age from cyanosis

postnatal lethality, incomplete penetrance ( J:5109 )

• many die before weaning from malocclusion

cardiovascular system

abnormal blood circulation ( J:5109 )

craniofacial

abnormal craniofacial morphology ( J:5109 )

• bull dog-like appearance due to the domed head and shortened upper jaw

decreased cranium length ( J:5109 )

• skull length is reduced to 77% of normal

decreased cranium width ( J:5109 )

• skull width is reduced to 95% of normal

malocclusion ( J:5109 )

short maxilla ( J:5109 )

domed cranium ( J:5109 )

abnormal nose morphology ( J:5109 )

• short nose with a broad transverse depression across the base

growth/size/body

malocclusion ( J:5109 )

short maxilla ( J:5109 )

abnormal nose morphology ( J:5109 )

• short nose with a broad transverse depression across the base

abnormal postnatal growth/weight/body size ( J:5109 )

• square rumped

abnormal body weight ( J:5109 )

• 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

decreased body weight ( J:5109 )

• at birth, weigh slighly less than controls and adults never attain normal weight

postnatal growth retardation ( J:5109 )

• during the first few weeks, growth is greatly retarded

distended abdomen ( J:5109 )

limbs/digits/tail

brachydactyly ( J:5109 )

• short thick toes

short humerus ( J:5109 )

short radius ( J:5109 )

short ulna ( J:5109 )

short femur ( J:5109 )

short tibia ( J:5109 )

short limbs ( J:5109 )

short tail ( J:5109 )

• tail is reduced to 51% of normal

thick tail ( J:5109 )

skeleton

abnormal long bone epiphyseal plate morphology ( J:5109 )

abnormal long bone epiphyseal plate proliferative zone ( J:5109 )

• proliferating cartilage cell columns are shorter

decreased width of hypertrophic chondrocyte zone ( J:5109 )

decreased long bone epiphyseal plate size ( J:5109 )

• thinner epiphyseal plate

decreased length of long bones ( J:5109 )

• lengths of limb bones are 60 to 72% of normal

short humerus ( J:5109 )

short radius ( J:5109 )

short ulna ( J:5109 )

short femur ( J:5109 )

short tibia ( J:5109 )

short scapula ( J:5109 )

• reduced width of scapula

abnormal pelvic girdle bone morphology ( J:5109 )

• short pelvis

abnormal axial skeleton morphology ( J:5109 )

• axial skeleton is reduced to 68% of normal

decreased cranium length ( J:5109 )

• skull length is reduced to 77% of normal

decreased cranium width ( J:5109 )

• skull width is reduced to 95% of normal

malocclusion ( J:5109 )

short maxilla ( J:5109 )

domed cranium ( J:5109 )

short vertebral column ( J:5109 )

abnormal bone trabecula morphology ( J:5109 )

• primary trabeculae are shorter, less numerous, and not aligned as well as in controls

respiratory system

abnormal nose morphology ( J:5109 )

• short nose with a broad transverse depression across the base

homeostasis/metabolism

cyanosis ( J:5109 )

• some die from cyanosis

reproductive system

reduced fertility ( J:5109 )

• neither sex breeds well

hematopoietic system

small spleen ( J:5109 )

• spleen size is 37% of normal

immune system

small spleen ( J:5109 )

• spleen size is 37% of normal