All Phenotypes Lse MGI Mouse

mortality/aging ( J:338204 )

N	• normal lifespan on a mixed C57BL/6J;C3H/FeJ F1 background

postnatal lethality, incomplete penetrance ( J:8618 )

• 50% of heterozygotes do not survive to weaning

prenatal lethality, incomplete penetrance ( J:8618 )

• the number of heterozygotes born is less than the expected ratio

abnormal occipital bone morphology ( J:338204 )

• hypoplastic paraoccipital process in 9 of 11 mice

abnormal retrotympanic process morphology ( J:338204 )

• tends to be thicker

abnormal hyoid bone body morphology ( J:338204 )

palatine bone horizontal plate hypoplasia ( J:338204 )

• slightly hypoplastic at E18.5

abnormal pharyngeal arch morphology ( J:8618 )

• 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

lowered ear position ( J:8618 , J:338204 )

• 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)

abnormal ear shape ( J:8618 )

• 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

abnormal external auditory canal morphology ( J:8618 )

• external auditory meatus remains open at birth

keratoconjunctivitis sicca ( J:338204 )

• occasional

abnormal occipital bone morphology ( J:338204 )

• hypoplastic paraoccipital process in 9 of 11 mice

abnormal retrotympanic process morphology ( J:338204 )

• tends to be thicker

abnormal hyoid bone body morphology ( J:338204 )

palatine bone horizontal plate hypoplasia ( J:338204 )

• slightly hypoplastic at E18.5

hearing/vestibular/ear phenotype ( J:338204 )

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

lowered ear position ( J:8618 , J:338204 )

• 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)

abnormal ear shape ( J:8618 )

• 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

abnormal external auditory canal morphology ( J:8618 )

• external auditory meatus remains open at birth

abnormal auditory bulla morphology ( J:338204 )

• abnormal shape consistent with abnormal orientation of the tympanic ring

abnormal tympanic ring morphology ( J:338204 )

• abnormal orientation

• ventrally shifted and slightly smaller at E18.5

abnormal embryonic tissue morphology ( J:8618 )

• 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 pharyngeal arch morphology ( J:8618 )

• 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

keratoconjunctivitis sicca ( J:338204 )

• occasional

increased cornea epithelium thickness ( J:338204 )

• at E14.5

disorganized cornea epithelium ( J:338204 )

• disorganized stellate morphology at E14.5

cornea opacity ( J:8618 )

abnormal eye development ( J:338204 )

• decrease in the space between the cornea and the lens at E14.5

exophthalmos ( J:338204 )

• slight bulging

palatine bone horizontal plate hypoplasia ( J:338204 )

• slightly hypoplastic at E18.5

lowered ear position ( J:8618 , J:338204 )

• 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)

abnormal ear shape ( J:8618 )

• 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

abnormal external auditory canal morphology ( J:8618 )

• external auditory meatus remains open at birth

decreased birth body size ( J:8618 )

• heterozygotes are smaller than wild-type at birth

decreased body size ( J:338204 )

• occasional

palatine bone horizontal plate hypoplasia ( J:338204 )

• slightly hypoplastic at E18.5

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

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosomal duplication syndrome		DOID:0060429		J:338204

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

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