Phenotypes Associated with This Genotype

Genotype
MGI:3690850

• Allelic Composition: Kitl^Sl/Kitl^Sl-d
• Genetic Background: (WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J

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

Kitl^Sl/Kitl^Sl-d mouse

growth/size/body

decreased body weight ( J:111273 )

♂ • male mutants weigh 29, 27, and 13% less than than wild-type littermates at 5, 7, and 12 weeks of age

postnatal growth retardation ( J:111273 )

♂ • at 5 weeks, tibial length in males is less than controls, but by 12 weeks there has been catch-up growth and no significant difference is detected

skeleton

abnormal osteoblast physiology ( J:111273 )

• in culture, primary osteoblasts display decreased mineralization compared to wild-type when both are treated with BMP-2

abnormal osteoclast morphology ( J:111273 )

• osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males

decreased bone mineral content ( J:111273 )

• whole body bone mineral content (BMC) is reduced in males compared to controls at all age groups

• in females, wild-type BMC is higher than in female mutants at 5 weeks

decreased bone mineral density ( J:111273 )

• bone mineral density (BMD) in males is significantly reduced at all age groups compared to controls; whole body as well as long bone and lumbar vertebral BMD are reduced

• in females, BMD at 5 weeks is reduced compared to controls with exception of the femur

• magnitude of change for each bone is larger in male mutants (9-41%) than female mutants (5-25%)

decreased trabecular bone volume ( J:111273 )

• cancellous bone volume/tissue volume is significantly reduced compared to wild-type

decreased compact bone thickness ( J:111273 )

♂ • cortical and marrow area of tibias is reduced in males vs controls

abnormal skeleton development ( J:111273 )

• bone formation rate is decreased in 5 week old mice and to a lesser extent at 7 weeks, but no difference is seen at 12 weeks

hematopoietic system

increased erythrocyte protoporphyrin level ( J:5985 )

• moderate but significant increase in protoporphrin levels in red blood cells compared to controls

abnormal osteoclast morphology ( J:111273 )

• osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males

immune system

abnormal osteoclast morphology ( J:111273 )

• osteoclast surface per bone surface is increased from 59% at 5 weeks to 441% at 12 weeks compared to wild-type males

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 )

• moderate but significant increase in protoporphrin levels in red blood cells compared to controls

cellular

abnormal osteoblast physiology ( J:111273 )

• in culture, primary osteoblasts display decreased mineralization compared to wild-type when both are treated with BMP-2