Phenotypes Associated with This Genotype

Genotype
MGI:4999766

hm1

• Allelic Composition: Slc39a14^tm1Thir/Slc39a14^tm1Thir
• Genetic Background: involves: 129 * C57BL/6

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

Dwarfism, torticollis, scoliosis, osteopenia, and shortened long bones in Slc39a14^tm1Thir/Slc39a14^tm1Thir mice

behavior/neurological

torticollis ( J:171670 )

• torticollis (wry neck)

liver/biliary system

abnormal liver zinc level ( J:171670 )

• mice exhibit lower hepatic zinc levels compared with wild-type mice

skeleton

decreased length of long bones ( J:171670 )

short femur ( J:171670 )

short tibia ( J:171670 )

scoliosis ( J:171670 )

decreased bone mineral density ( J:171670 )

decreased bone volume ( J:171670 )

decreased bone trabecula number ( J:171670 )

increased bone trabecular spacing ( J:171670 )

• trabecular separation is increased compared to in wild-type mice

osteoporosis ( J:171670 )

• moderate

abnormal chondrocyte differentiation ( J:171670 )

• chondrocyte differentiation in the growth plate is abnormal compared to in wild-type mice

muscle

torticollis ( J:171670 )

• torticollis (wry neck)

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:171670 )

abnormal gluconeogenesis ( J:171670 )

• fasting gluconeogenesis is impaired compared to in wild-type mice

abnormal growth hormone level ( J:171670 )

• following injection of growth hormone releasing hormone, mice exhibit a smaller increase in plasma growth hormone compared with similarly treated wild-type mice

abnormal liver zinc level ( J:171670 )

• mice exhibit lower hepatic zinc levels compared with wild-type mice

growth/size/body

decreased body size ( J:171670 )

• in neonates

decreased body weight ( J:171670 )

• in neonates and at 4 weeks

postnatal growth retardation ( J:171670 )

limbs/digits/tail

short femur ( J:171670 )

short tibia ( J:171670 )