Phenotypes Associated with This Genotype

Genotype
MGI:4355046

• Allelic Composition: Adam17^tm1.2Bbl/Adam17^tm1.2Bbl; Sox9^tm3(cre)Crm/Sox9⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

premature death ( J:144795 )

• some animals die by 5 months of age, but the majority survive past 5 months

growth/size/body

decreased body weight ( J:144795 )

• after 12 weeks of age, body weight of animals is decreased compared to controls

postnatal growth retardation ( J:144795 )

• mice show retarded growth

enlarged spleen ( J:144795 )

• spleen is proportionately larger by 8 weeks

hematopoietic system

extramedullary hematopoiesis ( J:144795 )

• hematopoiesis occurs in spleen (resulting is splenomegaly) and liver (which becomes more prominent with age)

increased bone marrow cell number ( J:144795 )

• marrow is hypercellular

decreased hematocrit ( J:144795 )

• at 8 weeks

increased hemoglobin content ( J:144795 )

• at 8 weeks

thrombocytosis ( J:144795 )

• at 8 weeks

decreased lymphocyte cell number ( J:144795 )

• white blood cell number is decreased compared to controls at 8 weeks

decreased B cell number ( J:144795 )

• relative decrease compared to controls is observed at 8 weeks

decreased T cell number ( J:144795 )

• relative decrease compared to controls is observed at 8 weeks

increased leukocyte cell number ( J:144795 )

• at 8 weeks

increased neutrophil cell number ( J:144795 )

• increased compared to controls

increased macrophage cell number ( J:144795 )

• increased compared to controls

abnormal spleen morphology ( J:144795 )

• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls

enlarged spleen ( J:144795 )

• spleen is proportionately larger by 8 weeks

increased spleen red pulp amount ( J:144795 )

• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly

immune system

decreased lymphocyte cell number ( J:144795 )

• white blood cell number is decreased compared to controls at 8 weeks

decreased B cell number ( J:144795 )

• relative decrease compared to controls is observed at 8 weeks

decreased T cell number ( J:144795 )

• relative decrease compared to controls is observed at 8 weeks

increased leukocyte cell number ( J:144795 )

• at 8 weeks

increased neutrophil cell number ( J:144795 )

• increased compared to controls

increased macrophage cell number ( J:144795 )

• increased compared to controls

abnormal spleen morphology ( J:144795 )

• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls

enlarged spleen ( J:144795 )

• spleen is proportionately larger by 8 weeks

increased spleen red pulp amount ( J:144795 )

• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly

increased circulating interleukin-17 level ( J:144795 )

• serum Il17 is significantly elevated

increased interleukin-17 secretion ( J:144795 )

• levels of Il17 are highly elevated compared to controls due to increase in Il17 producing cells

homeostasis/metabolism

increased circulating interleukin-17 level ( J:144795 )

• serum Il17 is significantly elevated

reproductive system

female infertility ( J:144795 )

♀ • females are sterile

reduced male fertility ( J:144795 )

♂ • male fertility is severely impaired

limbs/digits/tail

short femur ( J:144795 )

• femur length is 10-15% shorter than controls

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:144795 )

• zone is shorter than in controls

abnormal long bone hypertrophic chondrocyte zone ( J:144795 )

• zone is elongated; elongation is prominent at 2-3 weeks of age, and is less evident in older animals

decreased length of long bones ( J:144795 )

• bones are shorter than in controls

short femur ( J:144795 )

• femur length is 10-15% shorter than controls

abnormal bone marrow cavity morphology ( J:144795 )

• metatarsi remained filled with bone marrow cells at least up to 4 months postnatal, whereas bone marrow in control bones is replaced by adipose tissue beginning around 3 weeks of age, and is completely filled with fat cells by 8 weeks after birth

decreased compact bone thickness ( J:144795 )

• beginning at 8 weeks, animals have less cortical bone

decreased trabecular bone thickness ( J:144795 )

• beginning at 8 weeks, animals have less trabecular bone

decreased bone mass ( J:144795 )

• bone mass of femur is decreased compared to controls

osteoporosis ( J:144795 )

• animals show high-turnover type osteoporosis (characterized by increased osteoclast and osteoblast activities by about 8 weeks of age)

abnormal bone remodeling ( J:144795 )

• osteoclast-related (eroded surfaces, osteoclast numbers, and osteoclast surfaces) and osteoblast-related (osteoid volume, osteoid surfaces, and osteoblast surfaces) parameters are increased compared to controls

vision/eye

early eyelid opening ( J:144795 )

• mice are born with their eyes open

integument

abnormal hair growth ( J:144795 )

• mice have hair defects

abnormal skin condition ( J:144795 )

• mice show skin defects