Analysis Tools
mortality/aging
|
• homozygotes die within 1-2 days of birth when in mixed litters
• most homozygotes survive if most wild-type and heterozygous littermates are removed
|
pigmentation
|
• on an agouti background dorsal expansion of the lighter hair of the belly region is seen
|
behavior/neurological
craniofacial
|
• the parietal and frontal bones are more widely separated than normal
|
|
• at E18.5 the supra and lateral occipitals are prematurely fused
|
|
• smaller than normal
• at E18.5 the upper part of the dens of the atlas is incorporated into the basioccipital bone
• at E18.5 the basioccipital bone is extended posteriorly
• at E13.5 the posterior edge appears rugged
|
|
• in adults and at E18.5 the foramen magnum, through which the spinal cord passes to the cranial cavity, is reduced in size
• in adults this is due to vertical displacement of the supraoccipital bone and reduction in size of the basioccipital bone
|
|
• displaced vertically
|
|
• the glenoid and caudal processes are fused into a bony mass
• at E18.5, the glenoid process is widened
|
broad snout
(
J:96466
)
|
• the nasal area is broad
|
|
• ear position is abnormal
|
growth/size/body
broad snout
(
J:96466
)
|
• the nasal area is broad
|
|
• ear position is abnormal
|
|
• mutants are shorter and leaner through at least 1 year
|
hearing/vestibular/ear
|
• ear position is abnormal
|
limbs/digits/tail
|
• at E12.5, the mesenchymal condensation of the humerus in the forelimb bud is reduced in size as a result of decreased proliferation in the core region of the limb bud
• however, proliferation is normal in the peripheral region of the limb bud
|
|
• the length of the phalanges is slightly reduced
|
|
• less pronounced deltoid ridge
|
|
• at E18.5 the humerus is thinner
|
short humerus
(
J:96466
)
|
• in adults and at E18.5 the humerus is short
• at E13.5, E15.5, E18.5 and 3 months the length of the humerus is 88%, 83%, 81%, and 73.5% of wild-type, respectively
|
|
• the radius is sometimes twisted
|
short radius
(
J:96466
)
|
• at E18.5 the radius is reduced in length
|
|
• the ulna is sometimes twisted
|
short ulna
(
J:96466
)
|
• at E18.5 the ulna is reduced in length
|
short femur
(
J:96466
)
|
• the length of the metacarpals is slightly reduced
|
|
• the metatarsals are significantly shorter
|
muscle
|
• total muscle mass is reduced; however muscle differentiation is normal
|
reproductive system
skeleton
|
• a general reduction in bone size, widespread subtle changes in bone shape, and poor articulations are seen
|
|
• the parietal and frontal bones are more widely separated than normal
|
|
• at E18.5 the supra and lateral occipitals are prematurely fused
|
|
• smaller than normal
• at E18.5 the upper part of the dens of the atlas is incorporated into the basioccipital bone
• at E18.5 the basioccipital bone is extended posteriorly
• at E13.5 the posterior edge appears rugged
|
|
• in adults and at E18.5 the foramen magnum, through which the spinal cord passes to the cranial cavity, is reduced in size
• in adults this is due to vertical displacement of the supraoccipital bone and reduction in size of the basioccipital bone
|
|
• displaced vertically
|
|
• the glenoid and caudal processes are fused into a bony mass
• at E18.5, the glenoid process is widened
|
|
• the length of the phalanges is slightly reduced
|
|
• less pronounced deltoid ridge
|
|
• at E18.5 the humerus is thinner
|
short humerus
(
J:96466
)
|
• in adults and at E18.5 the humerus is short
• at E13.5, E15.5, E18.5 and 3 months the length of the humerus is 88%, 83%, 81%, and 73.5% of wild-type, respectively
|
|
• the radius is sometimes twisted
|
short radius
(
J:96466
)
|
• at E18.5 the radius is reduced in length
|
|
• the ulna is sometimes twisted
|
short ulna
(
J:96466
)
|
• at E18.5 the ulna is reduced in length
|
short femur
(
J:96466
)
|
• the length of the metacarpals is slightly reduced
|
|
• the metatarsals are significantly shorter
|
|
• the clavicle is smaller than normal
|
|
• at E18.5 the acromion is not yet ossified
|
|
• the acromion is reduced in size
|
|
• the spine is reduced in size
• at E18.5 the spine is not yet ossified
|
|
• in adults and at E18.5 and E13.5 the scapula has a hole in the posterior half
|
small scapula
(
J:96466
)
|
• in adults and at E18.5 and E13.5 the scapula is small
|
|
• at E18.5 the vertebral column lacks the normal S-bend resulting in the skull being perpendicular to the vertebral column
|
|
• the spinal process of the second thoracic vertebra is largely reduced
|
|
• at E13.5 the atlas is not fused
• at E18.5 the atlas is smaller and not fused
|
|
• at E13.5 the axis is not fused
• at E18.5 the axis is smaller and not fused
|
|
• at E18.5, the dens is split into 2 parts with the upper part incorporated into the basioccipital bone
|
|
• at E15.5 the number of prehypertrophic chondrocytes is reduced as a result of decreased proliferation
|
|
• at E12.5 the mesenchymal template of the basioccipital bone is smaller than normal
|
|
• endochondral ossification is delayed in early fetal stages
• at E15.5 and E18.5 the length of the ossified region is reduce to 71% and 78% of wild-type, respectively
|
vision/eye
embryo
|
• at E12.5, the mesenchymal condensation of the humerus in the forelimb bud is reduced in size as a result of decreased proliferation in the core region of the limb bud
• however, proliferation is normal in the peripheral region of the limb bud
|
integument
|
• on an agouti background dorsal expansion of the lighter hair of the belly region is seen
|
