Phenotypes associated with this allele

• Allele Symbol: Emx2^Pdo
• Allele Name: pardon
• Allele ID: MGI:3038078
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Emx2^Pdo/Emx2^Pdo	involves: BALB/c * C3H/HeN	MGI:3039364
ht2	Emx2^Pdo/Emx2^+	involves: BALB/c	MGI:6102907
ht3	Emx2^Pdo/Emx2^+	involves: BALB/c * C3H/HeN	MGI:3039365
ht4	Emx2^Pdo/Emx2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * BALB/c * C3H/HeN * C57BL/6	MGI:3039367

Genotype
MGI:3039364

hm1

• Allelic Composition: Emx2^Pdo/Emx2^Pdo
• Genetic Background: involves: BALB/c * C3H/HeN

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

mortality/aging

neonatal lethality, complete penetrance ( J:89093 )

• homozygous animals die shortly after birth

hearing/vestibular/ear

absent incus ( J:89093 )

• absent incus

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes head morphology ( J:89093 )

• a rounded head was observed

renal/urinary system

small kidney ( J:89093 )

• reduced size of either the left or right kidney

skeleton

absent incus ( J:89093 )

• absent incus

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes head morphology ( J:89093 )

• a rounded head was observed

craniofacial

absent incus ( J:89093 )

• absent incus

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes head morphology ( J:89093 )

• a rounded head was observed

Genotype
MGI:6102907

ht2

• Allelic Composition: Emx2^Pdo/Emx2⁺
• Genetic Background: involves: BALB/c

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:250208 )

abnormal incus morphology ( J:250208 )

abnormal malleus morphology ( J:250208 )

abnormal stapes morphology ( J:250208 )

abnormal cochlea morphology ( J:250208 )

increased cochlear outer hair cell number ( J:250208 )

• in the apical and middle turns of the cochlea

abnormal cochlear inner hair cell morphology ( J:250208 )

• some appearing to form a second row

increased cochlear nerve compound action potential ( J:250208 )

impaired hearing ( J:250208 )

nervous system

increased cochlear outer hair cell number ( J:250208 )

• in the apical and middle turns of the cochlea

abnormal cochlear inner hair cell morphology ( J:250208 )

• some appearing to form a second row

increased cochlear nerve compound action potential ( J:250208 )

craniofacial

abnormal middle ear ossicle morphology ( J:250208 )

abnormal incus morphology ( J:250208 )

abnormal malleus morphology ( J:250208 )

abnormal stapes morphology ( J:250208 )

skeleton

abnormal middle ear ossicle morphology ( J:250208 )

abnormal incus morphology ( J:250208 )

abnormal malleus morphology ( J:250208 )

abnormal stapes morphology ( J:250208 )

Genotype
MGI:3039365

ht3

• Allelic Composition: Emx2^Pdo/Emx2⁺
• Genetic Background: involves: BALB/c * C3H/HeN

behavior/neurological

absent pinna reflex ( J:89093 )

• lack of Preyer reflex, indicating a severe hearing defect

cardiovascular system

cardiovascular system phenotype ( J:89093 )

N • EEG recordings, gross histology and scanning EM analysis did not reveal any cardiac defects

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls

increased cochlear inner hair cell number ( J:82809 , J:89093 )

• the inner hair cells are disorganized with an increased number of cells noted (J:89093)

increased cochlear outer hair cell number ( J:82809 , J:89093 )

• four rows of outer hair cells are present instead of three; irregular arrangement is also noted; greater numbers of outer hair cells are present (J:89093)

decreased cochlear nerve compound action potential ( J:89093 )

• an increase in compound action potential threshold was seen

• normal endocochlear potential was also noted, suggesting that stria vascularis function was normal

conductive hearing loss ( J:82809 )

deafness ( J:89093 )

sensorineural hearing loss ( J:82809 )

syndromic hearing loss ( J:82809 )

skeleton

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls

abnormal incudomalleolar joint morphology ( J:89093 )

• defect in the articulatory surfaces between the malleus and the incus was noted

abnormal incudostapedial joint morphology ( J:89093 )

• defect in the articulation between the incus and stapes; no connection between the incus and stapes

nervous system

increased cochlear inner hair cell number ( J:82809 , J:89093 )

• the inner hair cells are disorganized with an increased number of cells noted (J:89093)

increased cochlear outer hair cell number ( J:82809 , J:89093 )

• four rows of outer hair cells are present instead of three; irregular arrangement is also noted; greater numbers of outer hair cells are present (J:89093)

decreased cochlear nerve compound action potential ( J:89093 )

• an increase in compound action potential threshold was seen

• normal endocochlear potential was also noted, suggesting that stria vascularis function was normal

craniofacial

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls

Genotype
MGI:3039367

ht4

• Allelic Composition: Emx2^Pdo/Emx2^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C3H/HeN * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:89093 )

• homozygous animals die shortly after birth

hearing/vestibular/ear

absent incus ( J:89093 )

renal/urinary system

small kidney ( J:89093 )

• reduced size of either the left or right kidney

skeleton

absent incus ( J:89093 )

craniofacial

absent incus ( J:89093 )