reproductive system
N |
(J:70205)
• Background Sensitivity: normal fertility and viable for more than 6 months
(J:101037)
• normal ovarian architecture with normal numbers of nonatretic primordial, primary, and small preantral follicles
(J:101037)
• normal oocyte apoptosis
(J:101037)
|
• granulosa cells of atretic follicles are not eliminated by apoptosis and when cultured in the absence of serum fail to complete nuclear fragmentation after initial DNA condensation
|
• shrunken and disorganized atretic follicles lacking blood cell infiltration
|
vision/eye
N |
• the size of the lens organelle free zone is normal
|
• slight reduction in lysis of fluorogenic substrate DEVD-AMC in both the core and cortex of the lens
|
• the epithelium at the anterior lens pole is multilayered and disorganized and the lens capsule above the opaque region has irregular folds
|
• marked cataracts on the optic acis due to accumulation of epithelial cells at the anterior pole of the lens evident by the end of the first postnatal week, mature by 3 weeks of age, but most 6 month to 2 year old homozygotes no longer have cataracts
|
hearing/vestibular/ear
• the greater epithelial ridge persists at 2 weeks of age throughout all turns of the cochlea
• the tunnel of Corti and other pericellular spaces are collapsed at 5 weeks of age
• hyperplasia and stratified arrangement of border cells throughout all turns of the cochlea at 2 and 5 weeks of age
|
• at 2 weeks of age there is fusion of stereocilia and at 5 weeks of age all outer hair cell stereocilia are fused at the tips to an unidentified V shaped object
|
• at 5 weeks of age degeneration of inner hair cells is apparent with only 1 row of inner hair cells present in the apical to middle turn
|
• at 5 weeks of age degeneration of outer hair cells is apparent with only 3 rows of outer hair cells present in the apical to middle turn
|
• ABR analysis at 2 weeks of age shows atypical waves at all frequencies with sound pressures above 70 dB
|
• at 5 weeks of age no significant waves are detected even at 100 dB
|
nervous system
• at 2 weeks of age there is fusion of stereocilia and at 5 weeks of age all outer hair cell stereocilia are fused at the tips to an unidentified V shaped object
|
• at 5 weeks of age degeneration of inner hair cells is apparent with only 1 row of inner hair cells present in the apical to middle turn
|
• at 5 weeks of age degeneration of outer hair cells is apparent with only 3 rows of outer hair cells present in the apical to middle turn
|
• at 5 weeks of age neurons are lost from the basal spiral ganglion
|
endocrine/exocrine glands
• granulosa cells of atretic follicles are not eliminated by apoptosis and when cultured in the absence of serum fail to complete nuclear fragmentation after initial DNA condensation
|
• shrunken and disorganized atretic follicles lacking blood cell infiltration
|
cellular
• mouse embryonic fibroblasts treated to initiate apoptosis fail to exhibit DNA fragmentation
|
• hemorrhagic response and destruction of the hepatic enothelium and subsequent death in response to injection with anti-Fas antibody Jo2 are delayed at least 12 hours relative to that in wildtype mice and the apoptotic pathway aberrently involves activation, but not altered expression, of caspases 2, 6, and 7
|
• following UV irradiation and staurosporine treatment, mouse embryonic fibroblasts (MEFs) exhibit increased survival compared to wild type MEFs but not as much as Casp7tm1Flv MEFs
|