mortality/aging
N |
• normal lifespan on a mixed C57BL/6J;C3H/FeJ F1 background
|
• 50% of heterozygotes do not survive to weaning
|
• the number of heterozygotes born is less than the expected ratio
|
craniofacial
• hypoplastic paraoccipital process in 9 of 11 mice
|
• tends to be thicker
|
• slightly hypoplastic at E18.5
|
• abnormal low-set position of primitive pinna is first observed at E13
• rather than fusing, the lower end of the pinna is separate from the caudal rim of fossa angularis
|
• ears appear lower and further forward on the head
(J:8618)
• ventrally shifted
(J:338204)
• at E13.5 the pinnae are ventrally shifted from the developing tragus and a furrow appears near the fossa angularis
(J:338204)
• lowered ear position is visible at E13.5 and E17.5
(J:338204)
|
• pinna is more rectangular than oval
• pinna is shapeless and thin and does not project upward over skull
• auricle is exposed
• anthelix is a slight elevation near the margin of the pinna rather than a distinct and sharp fold
• tragus and antitragus are farther apart then wildtype
|
• external auditory meatus remains open at birth
|
immune system
• occasional
|
skeleton
• hypoplastic paraoccipital process in 9 of 11 mice
|
• tends to be thicker
|
• slightly hypoplastic at E18.5
|
hearing/vestibular/ear
N |
• hearing thresholds at 8 weeks of age are indistinguishable from wild-type controls
• similar to wild-type controls hearing thresholds are moderately impaired at 6 months of age
|
• ears appear lower and further forward on the head
(J:8618)
• ventrally shifted
(J:338204)
• at E13.5 the pinnae are ventrally shifted from the developing tragus and a furrow appears near the fossa angularis
(J:338204)
• lowered ear position is visible at E13.5 and E17.5
(J:338204)
|
• pinna is more rectangular than oval
• pinna is shapeless and thin and does not project upward over skull
• auricle is exposed
• anthelix is a slight elevation near the margin of the pinna rather than a distinct and sharp fold
• tragus and antitragus are farther apart then wildtype
|
• external auditory meatus remains open at birth
|
• abnormal shape consistent with abnormal orientation of the tympanic ring
|
• abnormal orientation
• ventrally shifted and slightly smaller at E18.5
|
embryo
• the shape of the bottom of the fossa angularis forms a shallow trough rather than a narrow furrow at E13
• in at least one E13 embryo, the distance between the edge of the pinna and the tragus is increased in comparison to wild-type
|
• abnormal low-set position of primitive pinna is first observed at E13
• rather than fusing, the lower end of the pinna is separate from the caudal rim of fossa angularis
|
vision/eye
• occasional
|
• at E14.5
|
• disorganized stellate morphology at E14.5
|
cornea opacity
(
J:8618
)
• decrease in the space between the cornea and the lens at E14.5
|
exophthalmos
(
J:338204
)
• slight bulging
|
growth/size/body
• slightly hypoplastic at E18.5
|
• ears appear lower and further forward on the head
(J:8618)
• ventrally shifted
(J:338204)
• at E13.5 the pinnae are ventrally shifted from the developing tragus and a furrow appears near the fossa angularis
(J:338204)
• lowered ear position is visible at E13.5 and E17.5
(J:338204)
|
• pinna is more rectangular than oval
• pinna is shapeless and thin and does not project upward over skull
• auricle is exposed
• anthelix is a slight elevation near the margin of the pinna rather than a distinct and sharp fold
• tragus and antitragus are farther apart then wildtype
|
• external auditory meatus remains open at birth
|
• heterozygotes are smaller than wild-type at birth
|
• occasional
|
digestive/alimentary system
• slightly hypoplastic at E18.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
chromosomal duplication syndrome | DOID:0060429 | J:338204 |