Phenotypes associated with this allele

• Allele Symbol: Tg(Pax2-cre)1Akg
• Allele Name: transgene insertion 1, Andrew K Groves
• Allele ID: MGI:3046196
• Summary: 14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg Tg(Pax2-cre)1Akg/0	involves: 129	MGI:4440933
cn2	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Pax2-cre)1Akg/0	involves: 129	MGI:7439354
cn3	Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu Tg(Pax2-cre)1Akg/0	involves: 129 * C57BL/6N * FVB/N	MGI:5304567
cn4	Tbx1^tm2.1Bem/Tbx1^tm2.2Bem Tg(Pax2-cre)1Akg/0	involves: 129 * C57BL/6 * SJL	MGI:3703706
cn5	Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor^+ Tg(Pax2-cre)1Akg/0	involves: 129 * C57BL/6 * SJL	MGI:5551751
cn6	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Pax2-cre)1Akg/0	involves: 129P2/OlaHsd	MGI:3713804
cn7	Notch1^tm1Con/Notch1^tm1Grid Tg(Pax2-cre)1Akg/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3713803
cn8	Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb Tbx1^tm6(cre)Bld/Tbx1^+ Tg(Pax2-cre)1Akg/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5538349
cn9	Hgf^tm1Jmw/Hgf^tm1Jmw Tg(Pax2-cre)1Akg/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:6446739
cn10	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(Pax2-cre)1Akg/0	involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6	MGI:7518606
cn11	Gata3^tm1.1Gan/Gata3^tm1.1Gan Tg(Pax2-cre)1Akg/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr	MGI:5518952
cn12	Gata3^tm1.1Gan/Gata3^+ Tg(Pax2-cre)1Akg/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr	MGI:5518953
cn13	Tg(Pax2-cre)1Akg/0 Vangl2^tm1.2Mdea/Vangl2^tm2.1Mdea	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5552006
cn14	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm Tg(Pax2-cre)1Akg/0	involves: 129S * C57BL/6	MGI:7518554

Genotype
MGI:4440933

cn1

• Allelic Composition: Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129

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

behavior/neurological

excessive scratching ( J:158273 )

• resulting in skin lesions in most animals

abnormal chemical nociception ( J:158273 )

• mice show excessive scratching in response to pruritic agents

integument

skin lesions ( J:158273 )

• animals display self-inflicted skin lesions

Genotype
MGI:7439354

cn2

• Allelic Composition: Dicer1^tm1Bdh/Dicer1^tm1Bdh; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129

mortality/aging

lethality throughout fetal growth and development ( J:200017 )

• mice exhibit late embryonic lethality at E18.5

craniofacial

abnormal craniofacial morphology ( J:200017 )

• at E17.5, mice exhibit severe craniofacial dysmorphism, including a secondary palatal cleft

• however, orofacial development is not affected prior to E11.5

abnormal craniofacial bone morphology ( J:200017 )

• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base

• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal

abnormal basicranium morphology ( J:200017 )

• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base

abnormal basisphenoid bone morphology ( J:200017 )

• at E17.5, the basisphenoid of the cranial base shows impaired growth

abnormal frontal bone morphology ( J:200017 )

• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

absent alisphenoid bone ( J:200017 )

• at E17.5, the alisphenoid is absent

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

absent presphenoid bone ( J:200017 )

• at E17.5, the presphenoid is absent

absent temporal bone squamous part ( J:200017 )

• at E17.5, the squamosal bone is absent

small neurocranium ( J:200017 )

• reduction in cranial vault size at E17.5

shallow orbits ( J:200017 )

• shallow orbits at E17.5

small mandible ( J:200017 )

• at E17.5, the mandible is reduced in size

abnormal maxillary frontal process morphology ( J:200017 )

• at E17.5, the frontal process of the maxilla is reduced in size

micrognathia ( J:200017 )

• micrognathia at E17.5

absent palatine bone ( J:200017 )

• at E17.5, the palatine bones of the maxilla are absent

small vomer bone ( J:200017 )

• at E17.5, the vomer is reduced in size

absent zygomatic bone ( J:200017 )

• at E17.5, the jugal (zygoma) bone is absent

abnormal craniofacial development ( J:200017 )

• at E11.5, apoptotic (ApopTag+) cells are detected throughout the orofacial region, esp. in the developing palatal areas

• however, ApopTag+ cells are not observed in the palatal region at E17.5

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

midface hypoplasia ( J:200017 )

• midface hypoplasia at E17.5

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

growth/size/body

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

midface hypoplasia ( J:200017 )

• midface hypoplasia at E17.5

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

digestive/alimentary system

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

skeleton

abnormal craniofacial bone morphology ( J:200017 )

• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base

• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal

abnormal basicranium morphology ( J:200017 )

• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base

abnormal basisphenoid bone morphology ( J:200017 )

• at E17.5, the basisphenoid of the cranial base shows impaired growth

abnormal frontal bone morphology ( J:200017 )

• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

absent alisphenoid bone ( J:200017 )

• at E17.5, the alisphenoid is absent

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

absent presphenoid bone ( J:200017 )

• at E17.5, the presphenoid is absent

absent temporal bone squamous part ( J:200017 )

• at E17.5, the squamosal bone is absent

small neurocranium ( J:200017 )

• reduction in cranial vault size at E17.5

shallow orbits ( J:200017 )

• shallow orbits at E17.5

small mandible ( J:200017 )

• at E17.5, the mandible is reduced in size

abnormal maxillary frontal process morphology ( J:200017 )

• at E17.5, the frontal process of the maxilla is reduced in size

micrognathia ( J:200017 )

• micrognathia at E17.5

absent palatine bone ( J:200017 )

• at E17.5, the palatine bones of the maxilla are absent

small vomer bone ( J:200017 )

• at E17.5, the vomer is reduced in size

absent zygomatic bone ( J:200017 )

• at E17.5, the jugal (zygoma) bone is absent

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

vision/eye

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

shallow orbits ( J:200017 )

• shallow orbits at E17.5

exophthalmos ( J:200017 )

• exophthalmos due to shallow orbits at E17.5

absent eyelids ( J:200017 )

• absence of eyelid formation at E17.5

nervous system

intracerebral hemorrhage ( J:200017 )

• slight cerebral hemorrhage at E17.5

hearing/vestibular/ear

decreased tympanic ring size ( J:200017 )

• at E17.5, the tympanic ring is reduced in size

cellular

decreased cell proliferation ( J:200017 )

• at E11.5, the total number of EdU+ cells are markedly reduced in the region of the developing brain and first pharyngeal arch

cardiovascular system

intracerebral hemorrhage ( J:200017 )

• slight cerebral hemorrhage at E17.5

Genotype
MGI:5304567

cn3

• Allelic Composition: Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129 * C57BL/6N * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:179845 )

• all mice die within 36 hours of life

nervous system

increased neuron apoptosis ( J:179845 )

• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia

abnormal radial glial cell morphology ( J:179845 )

• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice

decreased radial glial cell number ( J:179845 )

• fewer radial glial cells in the cerebellum at E12.5

abnormal Purkinje cell migration ( J:179845 )

• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice

decreased midbrain size ( J:179845 )

• small midbrain at E17.5

midbrain hypoplasia ( J:179845 )

• hypoplasia is more severe at the vermis (midline region) than in cerebellar hemispheres

abnormal cerebellum morphology ( J:179845 )

• cell stratification is disorganized

abnormal cerebellum development ( J:179845 )

• cerebellum growth retardation begins at E12.5 and E14.5 due to decreased cell proliferation, increased ectopic apoptosis (beginning at E14.5), and impaired expansion of cerebellum volume

• at E14.5, expansion of the intermediate zone is delayed compared to in wild-type mice

abnormal cerebellar foliation ( J:179845 )

• at P0

absent Purkinje cell layer ( J:179845 )

cerebellum vermis hypoplasia ( J:179845 )

small cerebellum ( J:179845 )

• at E17.5

cerebellum hypoplasia ( J:179845 )

• at E17.5 and P0

abnormal embryonic/fetal subventricular zone morphology ( J:179845 )

• at E12.5, the subventricular zone has fewer and disorganized cells above the proliferating cell layers compared to in wild-type mice

craniofacial

short mandible ( J:179845 )

micrognathia ( J:179845 )

• in all mice

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42

behavior/neurological

absent gastric milk in neonates ( J:179845 )

• in mice with normal palates

dysphagia ( J:179845 )

muscle

abnormal skeletal muscle morphology ( J:179845 )

• at P0, lipid accumulates in the forelimb skeletal muscle

respiratory system

respiratory distress ( J:179845 )

cellular

abnormal cell morphology ( J:179845 )

• at E18.5, cells of the cerebellum exhibit abnormal mitochondrial and autophagic-like vacuoles compared to in wild-type mice

abnormal mitochondrial morphology ( J:179845 )

• in cells of the cerebellum

increased neuron apoptosis ( J:179845 )

• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia

abnormal radial glial cell morphology ( J:179845 )

• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice

decreased radial glial cell number ( J:179845 )

• fewer radial glial cells in the cerebellum at E12.5

abnormal Purkinje cell migration ( J:179845 )

• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice

skeleton

short mandible ( J:179845 )

micrognathia ( J:179845 )

• in all mice

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

digestive/alimentary system

dysphagia ( J:179845 )

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42

growth/size/body

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42

Genotype
MGI:3703706

cn4

• Allelic Composition: Tbx1^tm2.1Bem/Tbx1^tm2.2Bem; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

hearing/vestibular/ear

small otic vesicle ( J:109536 )

• at E10.5

otic vesicle hypoplasia ( J:109536 )

• early otic vesicle development is normal; however, the structure is hypoplastic at E10.5

• in contrast, periotic mesenchyme development appears normal

abnormal inner ear morphology ( J:109536 )

• at E17.5, 12 of 16 mutant ears show complete failure of inner ear development while the remaining appear completely normal

• in contrast, formation of the otic capsule and development of middle ear ossicles and pinnae is clearly normal at E17.5 and in adulthood

absent cochlea ( J:109536 )

• in 12 of 16 mutant inner ears

absent semicircular canals ( J:109536 )

• in 12 of 16 mutant inner ears

absent inner ear vestibule ( J:109536 )

• in 12 of 16 mutant inner ears

absent inner ear ( J:109536 )

• at E17.5, 6 of 8 mutants show complete aplasia of inner ear sensory organs

inner ear hypoplasia ( J:109536 )

• at E17.5, 6 of 8 mutant embryos display a severely hypoplastic inner ear

• severe hypoplasia is bilateral and present in 12/16 mutant ears

• at E17.5, the inner ear persists in a rudimentary otic vesicle stage

increased or absent threshold for auditory brainstem response ( J:109536 )

• 3 of 5 adults exhibit no hearing on either the left or right side, as determined by auditory brainstem response testing

• the remaining two adults display normal hearing, consistent with the incomplete penetrance of the inner ear phenotype noted at E17.5

sensorineural hearing loss ( J:109536 )

• in 3 of 5 adult mutants

nervous system

abnormal vestibulocochlear ganglion morphology ( J:109536 )

• at E10.5, a smaller otic vesicle is surrounded by an expanded cochleovestibular ganglion

• at E11.5, the cochleovestibular ganglion is duplicated around the otic vesicle anterior-posterior midline

embryo

embryo phenotype ( J:109536 )

N • at E10.5, mutants show normal invagination of the pharyngeal endoderm to form the future tubotympanic recess

craniofacial

craniofacial phenotype ( J:109536 )

N • mutants survive in normal Mendelian ratios through adulthood and show normal craniofacial bone development at E17.5

Genotype
MGI:5551751

cn5

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor⁺; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Thymic aplasia, nasal malformations, and eye, pharyngeal and ear defects in Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor⁺ Foxg1^tm1(cre)Skm/Foxg1⁺ mice and microcephaly, ocular and ear defects in Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor⁺ Tg(Pax2-cre)1Akg/0 mice

mortality/aging

perinatal lethality, complete penetrance ( J:204435 )

hearing/vestibular/ear

abnormal cochlea morphology ( J:204435 )

• hypoplastic to varying degrees, but enlarged in two instances

abnormal semicircular canal morphology ( J:204435 )

• fusion plates are not joined at E12.25

• however, they have partially recovered by E14.5

abnormal common crus morphology ( J:204435 )

• enlarged at E14.5

absent lateral semicircular canal ( J:204435 )

absent utricle ( J:204435 )

absent vestibular saccule ( J:204435 )

abnormal endolymphatic duct morphology ( J:204435 )

• enlarged at E14.5

Genotype
MGI:3713804

cn6

• Allelic Composition: Rbpj^tm1Hon/Rbpj^tm1Hon; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129P2/OlaHsd

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119907 )

• embryos are normal at E12.5, but die at E13.5

renal/urinary system

absent podocytes ( J:119907 )

• podocytes with WT1^high expression do not develop in E12.5 cultures

abnormal proximal convoluted tubule morphology ( J:119907 )

• cultured E12.5 mtanephroi branch normally, but tubules positive for LTL (lectin) are not detected

Genotype
MGI:3713803

cn7

• Allelic Composition: Notch1^tm1Con/Notch1^tm1Grid; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119907 )

• embryos are normal at E12.5, but die at E13.5

renal/urinary system

renal/urinary system phenotype ( J:119907 )

N • metanephroi appear normal morphologically and histologically when cultured at E12.5

cardiovascular system

abnormal vascular development ( J:119907 )

internal hemorrhage ( J:119907 )

Genotype
MGI:5538349

cn8

• Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb; Tbx1^tm6(cre)Bld/Tbx1⁺; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

hyperactivity ( J:201156 )

circling ( J:201156 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:201156 )

• collapse of the membranes of the vestibular compartments

collapsed Reissner membrane ( J:201156 )

abnormal crista ampullaris morphology ( J:201156 )

• cristae degeneration

utricular degeneration ( J:201156 )

vestibular saccular degeneration ( J:201156 )

Genotype
MGI:6446739

cn9

• Allelic Composition: Hgf^tm1Jmw/Hgf^tm1Jmw; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

hearing/vestibular/ear

abnormal strial intermediate cell morphology ( J:289982 )

• reduction in future strial intermediate cells

pigmentation

abnormal strial intermediate cell morphology ( J:289982 )

• reduction in future strial intermediate cells

Genotype
MGI:7518606

cn10

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:310063 )

• 57% shorter compared to controls

abnormal cochlear sensory epithelium morphology ( J:310063 )

• region specific defects in innervation and patterning of the sensory epithelium

• in the middle region there is a narrowing of the epithelium with missing outer hair cells and a bifurcation of the direction of neuritic projections, with most neurites projecting towards the apex rather than the base

• severity of the phenotype in the middle region varies widely in severity

• some show undulating epithelium

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

nervous system

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

abnormal vestibulocochlear ganglion morphology ( J:310063 )

• disorganized spiral ganglion neurite projections in the apex of the cochlea

Genotype
MGI:5518952

cn11

• Allelic Composition: Gata3^tm1.1Gan/Gata3^tm1.1Gan; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

mortality/aging

neonatal lethality, complete penetrance ( J:199588 )

• mice die shortly after birth

hearing/vestibular/ear

abnormal inner ear development ( J:199588 )

• short cochlea with no obvious turns with some degree of bifurcation at the apex region at E13.5

• prosensory domain development, as determined by marker expression, is disrupted

• however, initial cochleovestibular ganglion generation is normal

abnormal cochlea morphology ( J:199588 )

• disorganized, miniature, short cochlear duct with no obvious turns

abnormal organ of Corti morphology ( J:199588 )

• patchy formation of the organ of Corti-like structures, containing sometimes limited supporting cells either lacking or variable numbers of hair cells

abnormal cochlear hair cell morphology ( J:199588 )

• disorganized

decreased cochlear hair cell number ( J:199588 )

• in some organ of Corti-like structures

absent cochlear hair cells ( J:199588 )

• in some organ of Corti-like structures

decreased organ of Corti supporting cell number ( J:199588 )

• in some mice

decreased cochlea coiling ( J:199588 )

• no obvious turns

abnormal crista ampullaris morphology ( J:199588 )

• absent horizontal crista

• however, the anterior cristae seems normal

inner ear hypoplasia ( J:199588 )

nervous system

abnormal cochlear hair cell morphology ( J:199588 )

• disorganized

decreased cochlear hair cell number ( J:199588 )

• in some organ of Corti-like structures

absent cochlear hair cells ( J:199588 )

• in some organ of Corti-like structures

abnormal cochlear ganglion morphology ( J:199588 )

• auditory fibers and projection defects

• however, neural fibers to the utricle and anterior cristae are normal

cochlear ganglion degeneration ( J:199588 )

• loss of spiral ganglion nerves during early development

• however, initial cochleovestibular ganglion generation is normal

abnormal vestibular ganglion morphology ( J:199588 )

• missing inferior vestibular ganglion

cellular

increased apoptosis ( J:199588 )

• in the cochlear duct beyond the prosensory region at E12.5 and E13.5

• in the spiral ganglion nerves during early development

Genotype
MGI:5518953

cn12

• Allelic Composition: Gata3^tm1.1Gan/Gata3⁺; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

growth/size/body

decreased body weight ( J:199588 )

• from P27

Genotype
MGI:5552006

cn13

• Allelic Composition: Tg(Pax2-cre)1Akg/0; Vangl2^tm1.2Mdea/Vangl2^tm2.1Mdea
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:201321 )

N • cochlear length and number of turns are normal

abnormal orientation of inner hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal orientation of outer hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal Deiters cell morphology ( J:201321 )

• shifted out of the second and third outer hair cell rows and not centrally positioned between the hair cell lateral edges

abnormal pillar cell morphology ( J:201321 )

• at P10 and P12, more pronounced in the apical turn

• more compact and incorrectly positioned compared with control mice

abnormal auditory brainstem response ( J:201321 )

• reduced ABR amplitude

• however, the overall shape of the waveform is normal

increased or absent threshold for auditory brainstem response ( J:201321 )

• mild

abnormal distortion product otoacoustic emission ( J:201321 )

• decreased amplitude of the distortion product

nervous system

abnormal orientation of inner hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal orientation of outer hair cell stereociliary bundles ( J:201321 )

• misorientated

Genotype
MGI:7518554

cn14

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:310063 )

• severely malformed and hypoplastic

absent lateral semicircular canal ( J:310063 )

absent superior semicircular canal ( J:310063 )