All Phenotypes Tent5a<m1Mhda> MGI Mouse

lethality, incomplete penetrance ( J:230816 )

• heterozygous intercrosses yield a low number of homozygotes suggesting partial lethality

increased alkaline phosphatase activity ( J:183993 , J:230816 )

• very high ALP activity (J:183993)

• at 12 weeks of age, both male and female homozygotes show significantly increased ALP activities relative to wild-type controls; in male homozygotes, mean ALP values are twice as high as in heterozygous males (J:230816)

decreased body size ( J:183993 , J:230816 )

• offspring of heterozygous intercrosses show reduced body size (J:183993)

• all homozygotes exhibit significantly reduced body size relative to wild-type and heterozygous littermates (J:230816)

decreased body height ( J:230816 )

• all homozygotes exhibit a proportionate short stature relative to wild-type and heterozygous littermates

abnormal gait ( J:230816 )

• homozygotes display an abnormal gait due to shortened and twisted front and/or hind limbs with variable severity

abnormal skeleton morphology ( J:230816 )

• one severely affected 22-week-old male displayed severe abnormalities of the long bones, joints, ribs, and vertebrae

small cranium ( J:230816 )

• 25-week-old homozygotes have small skulls

thin neurocranium ( J:230816 )

• 25-week-old homozygotes display abnormally thin (probably hypomineralized) calvaria

abnormal calcaneum morphology ( J:230816 )

• in one severely affected 22-week-old male, the right talocalcaneal joint calcaneum was shortened, malformed, and embedded in a hypertrophic mass of unidentified tissue

abnormal humerus morphology ( J:230816 )

• 25-week-old homozygotes display humeral malformations such as thickening and twisting

abnormal deltoid tuberosity morphology ( J:230816 )

• in one severely affected 22-week-old male, the left humerus appeared malformed (thickened) at the region of the deltoid tuberosity

increased diameter of humerus ( J:230816 )

• one severely affected 22-week-old male displayed thickened humeral bones

• a shortened and thickened left humerus was observed in another homozygote

short humerus ( J:230816 )

• one homozygote displayed a left shortened humerus

abnormal femur morphology ( J:230816 )

• in one severely affected 22-week-old male, the right femur was highly malformed (twisted) possibly due to a healed fracture

• 32- to 35-week-old homozygotes display shorter and fragile femoral bones with multiple spontaneous fractures and developing callus

decreased femur compact bone thickness ( J:230816 )

• 32- to 35-week-old homozygotes show reduced femoral cortical bone thickness at the diaphysis

short femur ( J:230816 )

• the right femur was shortened in one severely affected 22-week-old male

• 32- to 35-week-old homozygotes display shortened femurs

increased diameter of femur ( J:230816 )

• the right femur was thickened in one severely affected 22-week-old male

abnormal tibia morphology ( J:230816 )

• in one severely affected 22-week-old male, the thickening of the left talocalcaneal joint was identified as a malformation of the distal tibia

increased long bone epiphyseal plate size ( J:230816 )

• 32- to 35-week-old homozygotes show a trend towards enlargement of the femoral growth plate

abnormal scapula morphology ( J:230816 )

• 25-week-old homozygotes exhibit smaller and abnormally shaped scapulae

small scapula ( J:230816 )

abnormal ischium morphology ( J:230816 )

• 25-week-old homozygotes exhibit smaller and abnormally shaped ischium bones

small ischium ( J:230816 )

abnormal thoracic cage morphology ( J:230816 )

• one homozygote displayed compression of the rib cage

abnormal rib morphology ( J:230816 )

• one homozygote displayed severely malformed ribs with calluses

short ribs ( J:230816 )

• one homozygote displayed shortened ribs

abnormal vertebral column morphology ( J:230816 )

• the thoracic vertebral column was distorted in one severely affected 22-week-old male

absent bone trabeculae ( J:230816 )

• trabeculae are almost completely absent in femora of 32- to 35-week-old homozygotes

abnormal joint morphology ( J:230816 )

• in one severely affected 22-week-old male, the talocalcaneal joint appeared thickened and reddened at the left hind limb and abnormally twisted at the right hind limb

abnormal intramembranous bone ossification ( J:230816 )

• 25-week-old homozygotes exhibit severe defects in intramembranous ossification

delayed bone ossification ( J:230816 )

• 25-week-old homozygotes display a possible delay in ossification within the tail, snout, and pelvis

fragile skeleton ( J:230816 )

• 32- to 35-week-old homozygotes display fragile femoral bones with multiple spontaneous fractures and developing callus

abnormal limb morphology ( J:230816 )

• homozygotes show shortened and twisted front and/or hind limbs with variable severity