All Phenotypes Six1<tm1Mair> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Six1^tm1Mair/Six1^tm1Mair	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)	MGI:2655196
hm2	Six1^tm1Mair/Six1^tm1Mair	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297332
hm3	Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297331
hm4	Six1^tm1Mair/Six1^tm1Mair	involves: 129S2/SvPas	MGI:5516025
ht5	Six1^tm1Mair/Six1⁺	either: (involves: 129) or (involves: 129 * C57BL/6)	MGI:2673276
ht6	Six1^tm1Mair/Six1⁺	involves: 129 * C57BL/6J	MGI:3715120
cx7	Six1^tm1Mair/Six1^tm1Mair Six4^tm1Mair/Six4^tm1Mair	either: 129/Sv-Six1^tm1Mair Six4^tm1Mair or B6N.129-Six1^tm1Mair Six4^tm1Mair	MGI:3579989
cx8	Six1^tm1Mair/Six1^tm1Mair Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297337
cx9	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297329
cx10	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297330
cx11	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297328
cx12	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ	MGI:3054670
cx13	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3054671
cx14	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715225
cx15	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715233

Allelic Composition	Six1^tm1Mair/Six1^tm1Mair
Genetic Background	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:82459 )

muscle

abnormal genioglossus muscle morphology ( J:82459 )

• at E18.5, the genioglossus is markedly reduced

abnormal myogenesis ( J:82459 )

• homozygotes display impaired primary myogenesis of most body muscles

• at E13.5, all body muscles are either absent or severely disorganized, except some deep back and head muscles

• at E13.5, at the trunk level, the external myogenic layer (cutaneus maximus) is absent while the internal myogenic layer is reduced and disorganized

• most muscles at the shoulder level are absent, the latissimus dorsi is disorganized, and the abdominal and thoracic muscles are severly reduced

abnormal muscle fiber morphology ( J:82459 )

• at E13.5, homozygotes display a severe reduction and disorganisation of primary myofibers in most body muscles

abnormal hypaxial muscle morphology ( J:82459 )

• although hypaxial progenitors are correctly specified in somites, migrate normally into the limb buds and do not undergo apoptosis, they fail to activate MyoD and myogenin at E11.5

thin diaphragm muscle ( J:82459 )

• at E18.5, the diaphragm is devoid of skeletal muscle fibers and appears as a thin layer of connective tissue

abnormal intercostal muscle morphology ( J:82459 )

• at E18.5, back intercostal muscles are present but slightly reduced

decreased skeletal muscle mass ( J:82459 )

• at E18.5, homozygotes display reduced muscle mass, especially in distal territories

muscle hypoplasia ( J:82459 )

• at E18.5, homozygotes show extensive muscle hypoplasia affecting most of epaxial and hypaxial body muscles, esp. in certain hypaxial muscle groups

• at the distal forelimb level, dorsal muscles are absent and ventral muscles are strongly reduced

• at the distal hindlimb level, most ventral and intermediate muscles are absent, whereas dorsal muscles are only slightly reduced

• some superficial back muscles e.g. the trapezius, the latissimus dorsi and the serratus dorsalis are severely reduced or even absent

• at the head level, only the tongue and related muscles e.g. the genioglossus are markedly reduced

• back intercostal muscles are only slightly reduced

• reduced muscle size is due to a reduced number of myofibers; however, the decrease in the number of myofibers is quite variable in different muscles, ranging from a ~10% reduction in dorsal intercostal muscles to 50% in ventral intercostal muscles, 33% in tibialis anterior and 100% in soleus, plantaris and medial gastrocnemius

• notably, remaining myofibers are properly differentiated into fast and slow types

• in contrast to muscles, the tendons and connective tissue appear to be properly developed

skeleton

abnormal sternocostal joint morphology ( J:82459 )

• at E18.5, homozygotes display truncated distal ribs not attached to the sternum

• only 2 of 5 homozygotes show one or two ribs left attached to the sternum

abnormal sternum ossification ( J:82459 )

• at E18.5, homozygotes show disorganized sternum ossification

abnormal xiphoid process morphology ( J:82459 )

abnormal rib morphology ( J:82459 )

• at E18.5, all homozygotes display variable and asymmetric rib defects, with the right side more strongly affected

rib bifurcation ( J:82459 )

• at E18.5, homozygotes display rib bifurcations

rib fusion ( J:82459 )

• at E18.5, homozygotes display fusion of cartilage segments from adjacent ribs

craniofacial

abnormal genioglossus muscle morphology ( J:82459 )

• at E18.5, the genioglossus is markedly reduced

decreased tongue size ( J:82459 )

• at E18.5, the tongue and related muscles such as the genioglossus are markedly reduced

• other head muscles e.g the masseter appear correctly developed

digestive/alimentary system

abnormal genioglossus muscle morphology ( J:82459 )

• at E18.5, the genioglossus is markedly reduced

decreased tongue size ( J:82459 )

• at E18.5, the tongue and related muscles such as the genioglossus are markedly reduced

• other head muscles e.g the masseter appear correctly developed

growth/size/body

abnormal genioglossus muscle morphology ( J:82459 )

• at E18.5, the genioglossus is markedly reduced

decreased tongue size ( J:82459 )

• at E18.5, the tongue and related muscles such as the genioglossus are markedly reduced

• other head muscles e.g the masseter appear correctly developed

Allelic Composition	Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129 * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• less than 5% of embryos show cardiovascular defects at E17.5

Allelic Composition	Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

abnormal common carotid artery morphology ( J:172023 )

• 5% of embryos display duplicated left common carotid artery

abnormal cardiac outflow tract development ( J:172023 )

• 5% of mutants have great vessel defects

growth/size/body

abnormal face development ( J:172023 )

• dysmorphogenesis of the midface and deformation of nasal structures are observed in some embryos

abnormal midface morphology ( J:172023 )

• dysmorphogenesis of the midface

craniofacial

micrognathia ( J:172023 )

abnormal face development ( J:172023 )

• dysmorphogenesis of the midface and deformation of nasal structures are observed in some embryos

abnormal midface morphology ( J:172023 )

• dysmorphogenesis of the midface

muscle

abnormal skeletal muscle morphology ( J:172023 )

• embryos have severely hypoplastic branchiomeric muscles

skeleton

micrognathia ( J:172023 )

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

craniofacial

abnormal craniofacial bone morphology ( J:84417 )

• at E18.5, homozygotes display severe craniofacial bone abnormalities

abnormal styloid process morphology ( J:84417 )

• at E18.5, the styloid process is rudimentary

abnormal Meckel's cartilage morphology ( J:84417 )

• at E18.5, Meckel's cartilage is rudimentary

abnormal frontal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

short temporal bone squamous part ( J:84417 )

• at E18.5

abnormal hyoid bone greater horn morphology ( J:84417 )

• at E18.5, the greater horns of the hyoid bone are rudimentary

short mandible ( J:84417 )

• at E18.5

short maxilla ( J:84417 )

• at E18.5

short zygomatic bone ( J:84417 )

• at E18.5

decreased tongue size ( J:84417 )

abnormal nose morphology ( J:84417 )

• at E18.5, homozygotes show a characteristic angle at the nose level between the frontal bone and nasal bone

abnormal nasal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

absent turbinates ( J:84417 )

• at E18.5, the nasal cavity is not reticulated, indicating that chonchae fail to form

abnormal nasal cavity morphology ( J:84417 )

• newborns display extensive disorganization of the nasal cavity; no lateral reticulation is observed

• in contrast, the teeth primordium and the vibrissae follicules are correctly developed

abnormal olfactory epithelium morphology ( J:84417 )

• at E18.5, the deep layer of the olfactory epithelium is missing

• in contrast, the surrounding mesenchyme and cartilage appear correctly developed

endocrine/exocrine glands

absent parotid gland ( J:84417 )

• at E18.5, parotid glands are absent, even though the parotid ducts seem correctly elongated

decreased submandibular gland size ( J:84417 )

• at E18.5, submandibular glands are reduced

• however, submandibular gland acini appear histologically normal

athymia ( J:84417 )

• in newborns, the thymus is absent

abnormal lacrimal gland development ( J:84417 )

• at E18.5, lacrimal glands are severely disorganized and reduced, and abnormally localized close to the eye, as if the lacrimal ducts fail to elongate posteriorly

hearing/vestibular/ear

decreased otic epithelial cell proliferation ( J:84417 )

• at E13.5, BrdU/eosin staining indicates absence of the epithelium in the otic vesicle

abnormal inner ear morphology ( J:84417 )

• newborns display extensive disorganization of the inner ear

• in contrast, the external and middle ears are correctly shaped

absent scala media ( J:84417 )

• at E18.5, the cochlear duct is unrecognizable; only a residual duct is present

absent semicircular canals ( J:84417 )

• at E18.5, the semicircular ducts are unrecognizable

small otic capsule ( J:84417 )

• at E13.5, the otic capsule is strikingly reduced, whereas Rathke's pouch and the trigeminal ganglia (V) and the otic ganglia (IX) are still present

• however, development of the otic vesicle is correctly initiated at E11.5

muscle

abnormal epaxial muscle morphology ( J:84417 )

• at E18.5, epaxial muscles are slightly reduced

abnormal hypaxial muscle morphology ( J:84417 )

• at E18.5, hypaxial muscles are severely reduced

absent diaphragm ( J:84417 )

• at E18.5, the diaphragm muscle is absent

skeleton

abnormal craniofacial bone morphology ( J:84417 )

• at E18.5, homozygotes display severe craniofacial bone abnormalities

abnormal styloid process morphology ( J:84417 )

• at E18.5, the styloid process is rudimentary

abnormal Meckel's cartilage morphology ( J:84417 )

• at E18.5, Meckel's cartilage is rudimentary

abnormal frontal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

short temporal bone squamous part ( J:84417 )

• at E18.5

abnormal hyoid bone greater horn morphology ( J:84417 )

• at E18.5, the greater horns of the hyoid bone are rudimentary

short mandible ( J:84417 )

• at E18.5

short maxilla ( J:84417 )

• at E18.5

abnormal nasal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

absent turbinates ( J:84417 )

• at E18.5, the nasal cavity is not reticulated, indicating that chonchae fail to form

short zygomatic bone ( J:84417 )

• at E18.5

cervical vertebral fusion ( J:84417 )

• at E18.5, the atlas and axis are fused

vision/eye

abnormal lacrimal gland development ( J:84417 )

• at E18.5, lacrimal glands are severely disorganized and reduced, and abnormally localized close to the eye, as if the lacrimal ducts fail to elongate posteriorly

digestive/alimentary system

decreased tongue size ( J:84417 )

absent parotid gland ( J:84417 )

• at E18.5, parotid glands are absent, even though the parotid ducts seem correctly elongated

decreased submandibular gland size ( J:84417 )

• at E18.5, submandibular glands are reduced

• however, submandibular gland acini appear histologically normal

embryo

abnormal cranial neural crest cell morphology ( J:84417 )

• homozygotes show abnormal neural crest development, as shown by defects in formation of Meckel's cartilage, styloid process, and the greater horns of the hyoid bone

nervous system

abnormal cranial neural crest cell morphology ( J:84417 )

• homozygotes show abnormal neural crest development, as shown by defects in formation of Meckel's cartilage, styloid process, and the greater horns of the hyoid bone

renal/urinary system

absent metanephros ( J:84417 )

• at E13.5, the metanephros fails to develop whereas the mesonephric duct and the gonads develop correctly

absent kidney ( J:84417 )

• at E13.5, homozygotes display renal agenesis, probably due to defects in metanephric blastema differentiation

respiratory system

abnormal nose morphology ( J:84417 )

• at E18.5, homozygotes show a characteristic angle at the nose level between the frontal bone and nasal bone

abnormal nasal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

absent turbinates ( J:84417 )

• at E18.5, the nasal cavity is not reticulated, indicating that chonchae fail to form

abnormal nasal cavity morphology ( J:84417 )

• newborns display extensive disorganization of the nasal cavity; no lateral reticulation is observed

• in contrast, the teeth primordium and the vibrissae follicules are correctly developed

abnormal olfactory epithelium morphology ( J:84417 )

• at E18.5, the deep layer of the olfactory epithelium is missing

• in contrast, the surrounding mesenchyme and cartilage appear correctly developed

taste/olfaction

abnormal olfactory system morphology ( J:84417 )

• at E18.5, histology of the olfactory system is altered

• the olfactive cavity is severely disorganized

abnormal olfactory epithelium morphology ( J:84417 )

• at E18.5, the deep layer of the olfactory epithelium is missing

• in contrast, the surrounding mesenchyme and cartilage appear correctly developed

cellular

decreased otic epithelial cell proliferation ( J:84417 )

• at E13.5, BrdU/eosin staining indicates absence of the epithelium in the otic vesicle

hematopoietic system

athymia ( J:84417 )

• in newborns, the thymus is absent

immune system

athymia ( J:84417 )

• in newborns, the thymus is absent

mortality/aging

perinatal lethality, complete penetrance ( J:84417 )

• homozygotes die at birth due to absence of the diaphragm muscle and thoracic skeletal defects that could prevent proper breathing

growth/size/body

decreased tongue size ( J:84417 )

abnormal nose morphology ( J:84417 )

• at E18.5, homozygotes show a characteristic angle at the nose level between the frontal bone and nasal bone

abnormal nasal bone morphology ( J:84417 )

• at E18.5, frontal and nasal bones form an obtuse angle and are not properly aligned

absent turbinates ( J:84417 )

• at E18.5, the nasal cavity is not reticulated, indicating that chonchae fail to form

abnormal nasal cavity morphology ( J:84417 )

• newborns display extensive disorganization of the nasal cavity; no lateral reticulation is observed

• in contrast, the teeth primordium and the vibrissae follicules are correctly developed

abnormal olfactory epithelium morphology ( J:84417 )

• at E18.5, the deep layer of the olfactory epithelium is missing

• in contrast, the surrounding mesenchyme and cartilage appear correctly developed

Allelic Composition	Six1^tm1Mair/Six1⁺
Genetic Background	either: (involves: 129) or (involves: 129 * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:84974 )

• at E16.5, 4 of 22 heterozygous ears (in 3 of 11 embryos) display slightly shortened cochlea by latex paintfilling

abnormal middle ear morphology ( J:84974 )

• the middle ear space is small and partially filled with loose connective tissue, probably due to secondary inflammation

absent stapedial artery ( J:84974 )

• stapedial arteries are absent in 4 cases from 3 heterozygous animals

abnormal stapes morphology ( J:84974 )

• although the footplates of the stapes are seated in the oval window, the stapes has a small lumen

abnormal tympanic membrane morphology ( J:84974 )

increased or absent threshold for auditory brainstem response ( J:84974 )

• on a 129/Sv background, 8 of 13 heterozygotes show severe bilateral hearing loss (threshold shifted by 50 dB between 15 and 32 kHz), 2 of 13 mice show mild bilateral hearing loss (threshold shifted by 20 dB), whereas the remaining 3 mice have normal hearing in the right ears and >70 dB loss in the left ears

conductive hearing loss ( J:84974 )

• most heterozygotes exhibit some degree of conductive hearing loss; variable among mice and ears

• all affected heterozygotes show a failure of the middle ear ossicles to complete a sound transmission path from the tympanum to the oval window

unilateral deafness ( J:84974 )

• on a 129/Sv background, 3 of 13 heterozygotes display normal hearing in the right ears and >70 dB loss in the left ears

nervous system

abnormal facial nerve morphology ( J:84974 )

• in heterozygotes, the VIIth nerve passes abnormally close to the oval window and the stapes or fills up the middle ear space near the oval window

cardiovascular system

absent stapedial artery ( J:84974 )

• stapedial arteries are absent in 4 cases from 3 heterozygous animals

craniofacial

abnormal stapes morphology ( J:84974 )

• although the footplates of the stapes are seated in the oval window, the stapes has a small lumen

skeleton

abnormal stapes morphology ( J:84974 )

• although the footplates of the stapes are seated in the oval window, the stapes has a small lumen

Allelic Composition	Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

hearing/vestibular/ear

decreased cochlea coiling ( J:119574 )

• at E17.5, 6 of 20 heterozygous mutant cochleae (4 of 10 embryos) coil between 1.5 and 1.75 turns

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, only 1 of 20 heterozygous mutant sacculae (1 of 10 embryos) is malformed

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 20 heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac

Allelic Composition	Six1^tm1Mair/Six1^tm1Mair Six4^tm1Mair/Six4^tm1Mair
Genetic Background	either: 129/Sv-Six1^tm1Mair Six4^tm1Mair or B6N.129-Six1^tm1Mair Six4^tm1Mair

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)
Six4^tm1Mair mutation (0 available); any Six4 mutation (36 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:98519 )

• double homozygotes die at birth

skeleton

absent Meckel's cartilage ( J:98519 )

small temporal bone ( J:98519 )

• the temporal bone is reduced

small orbits ( J:98519 )

• the orbits are small

short mandible ( J:98519 )

• the mandible is extremely short

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent premaxilla ( J:98519 )

short maxilla ( J:98519 )

absent nasal bone ( J:98519 )

• absent nasal bone

absent zygomatic bone ( J:98519 )

abnormal sternocostal joint morphology ( J:98519 )

• no ribs attach to the sternum

short ribs ( J:98519 )

• distal ribs are reduced to small protrusions

muscle

abnormal muscle precursor cell migration ( J:98519 )

• muscle progenitor cells fail to migrate into the limbs

absent eye muscles ( J:98519 )

• most muscles are lacking at the eye level at E13.5

abnormal muscle development ( J:98519 )

abnormal skeletal muscle morphology ( J:98519 )

• most ventral muscles are missing

• back muscles at the forelimb level and more rostrally are abnormally shaped, while those at the interlimb and hindlimb level are not as severely affected

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

absent hypaxial muscle ( J:98519 )

• all muscles of the distal forelimb and hindlimb are absent

• all muscles of the proximal limbs are absent

• hypaxial muscle at the trunk level is severely diminished

muscle hypoplasia ( J:98519 )

• severe muscle hypoplasia is evident at E13.5 in the forelimbs with a total absence of myogenic cells in the limbs

• at E13.5, myogenic cell are absent from the abdominal region

• at E13.5, most muscles are lacking at the eye level and in the tongue; however, most head muscles are present at E18.5

hearing/vestibular/ear

anotia ( J:98519 )

• mutants are earless

abnormal inner ear morphology ( J:98519 )

• inner ear cartilage is absent

absent tympanic ring ( J:98519 )

• the ectotympanic bone is missing

growth/size/body

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent nasal bone ( J:98519 )

• absent nasal bone

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

anotia ( J:98519 )

• mutants are earless

decreased embryo size ( J:98519 )

distended abdomen ( J:98519 )

limbs/digits/tail

abnormal forelimb morphology ( J:98519 )

• abnormally bent forelimbs

abnormal hindlimb morphology ( J:98519 )

• abnormally bent hindlimbs

behavior/neurological

trunk curl ( J:98519 )

vision/eye

small orbits ( J:98519 )

• the orbits are small

absent eye muscles ( J:98519 )

• most muscles are lacking at the eye level at E13.5

exophthalmos ( J:98519 )

eyelids open at birth ( J:98519 )

craniofacial

absent Meckel's cartilage ( J:98519 )

small temporal bone ( J:98519 )

• the temporal bone is reduced

small orbits ( J:98519 )

• the orbits are small

short mandible ( J:98519 )

• the mandible is extremely short

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent premaxilla ( J:98519 )

short maxilla ( J:98519 )

absent nasal bone ( J:98519 )

• absent nasal bone

absent zygomatic bone ( J:98519 )

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

anotia ( J:98519 )

• mutants are earless

embryo

decreased embryo size ( J:98519 )

digestive/alimentary system

absent maxillary shelf ( J:98519 )

• the palatal process is absent

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

cellular

abnormal muscle precursor cell migration ( J:98519 )

• muscle progenitor cells fail to migrate into the limbs

respiratory system

absent nasal bone ( J:98519 )

• absent nasal bone

Allelic Composition	Six1^tm1Mair/Six1^tm1Mair Tbx1^tm1Bem/Tbx1^tm1Bem
Genetic Background	involves: 129 * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)
Tbx1^tm1Bem mutation (1 available); any Tbx1 mutation (34 available)

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

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 63% of embryos show cardiovascular defects at E17.5

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

retroesophageal right subclavian artery ( J:172023 )

• observed in 44% of embryos

interrupted aortic arch ( J:172023 )

• observed in 56% of embryos

vascular ring ( J:172023 )

• observed in 11% of embryos

abnormal cardiac outflow tract development ( J:172023 )

• 100% of compound mutants display outflow tract defects; most show multiple abnormalities

double outlet right ventricle ( J:172023 )

• observed in 33% of embryos

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

retroesophageal right subclavian artery ( J:172023 )

• observed in 20% of embryos

right aortic arch ( J:172023 )

• type B observed in 33%

abnormal common carotid artery morphology ( J:172023 )

• 13% of embryos display duplicated left common carotid artery

abnormal cardiac outflow tract development ( J:172023 )

• 87% of compound mutants display outflow tract defects

double outlet right ventricle ( J:172023 )

• observed in 13% of embryos

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

abnormal pulmonary artery morphology ( J:172023 )

• 14% of embryos display right sided pulmonary artery (RPA) and right-sided aortic arch (RAA) together

retroesophageal right subclavian artery ( J:172023 )

interrupted aortic arch, type b ( J:172023 )

• type B observed in 29% of embryos

right aortic arch ( J:172023 )

• observed in 43% of embryos

vascular ring ( J:172023 )

• in 29% of embryos

abnormal cardiac outflow tract development ( J:172023 )

• 100% of double homozygotes display outflow tract defects; most show multiple abnormalities

• about 70% of embryos have a single unseptated outflow vessel, with outflow valve containing 3 or 4 leaflets

persistent truncus arteriosus ( J:172023 )

• observed in 72% of embryos

double outlet right ventricle ( J:172023 )

• observed in 14% of embryos

craniofacial

abnormal craniofacial development ( J:172023 )

• embryos display more severe craniofacial defects than single Six1- or Eya1-deficient homozygotes

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

muscle

abnormal skeletal muscle morphology ( J:172023 )

• embryos have severely hypolplastic branchiomeric muscles

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

abnormal extraocular muscle morphology ( J:172023 )

• muscles are hypoplastic

cellular

increased apoptosis ( J:172023 )

• increased numbers of apoptotic cells are detected in the secondary heart field pharyngeal ectoderm and endoderm relative to controls

• apoptosis in pharyngeal mesenchymal cells derived from mesoderm or neural crest is significantly increased

decreased cell proliferation ( J:172023 )

• cell numbers in pharyngeal arches and outflow tracts are reduced relative to controls

digestive/alimentary system

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

vision/eye

abnormal extraocular muscle morphology ( J:172023 )

• muscles are hypoplastic

growth/size/body

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Find Mice

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

renal/urinary system

renal hypoplasia ( J:83432 )

• unilateral (6/21) or bilateral (9/21) kidney hypoplasia was seen on a 129 background

• Background Sensitivity: hypoplasia is more severe on a 129 background than on a C57BL/6 background

absent kidney ( J:83432 )

• bilateral (5/21) kidney agenesis was seen on a 129 background

single kidney ( J:83432 )

• unilateral (1/21) kidney agenesis was seen on a 129 background

abnormal ureteric bud morphology ( J:83432 )

impaired branching involved in ureteric bud morphogenesis ( J:83432 )

• the number of ureteric bud branches are decreased at E13.5

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

renal/urinary system

renal hypoplasia ( J:83432 )

• unilateral (6/14) or bilateral (4/14) kidney hypoplasia was seen on a C57BL/6 background

• Background Sensitivity: hypoplasia is more severe on a 129 background than on a C57BL/6 background

single kidney ( J:83432 )

• unilateral (4/10) kidney agenesis was seen on a C57BL/6 background

abnormal ureteric bud morphology ( J:83432 )

impaired branching involved in ureteric bud morphogenesis ( J:83432 )

• the number of ureteric bud branches is decreased at E13.5

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

hearing/vestibular/ear

abnormal inner ear morphology ( J:119574 )

• at E17.5, double heterozygotes display an enhanced inner ear phenotype relative to each single heterozygous mutant animal

abnormal cochlea morphology ( J:119574 )

• at E17.5, 4 of 20 double heterozygous mutant inner ears (4 of 10 embryos) display a malformed cochlea

decreased cochlea coiling ( J:119574 )

• at E17.5, 6 of 20 double heterozygous mutant cochleae (4 of 10 embryos) coil between 1.5 to 1.75 turns, 4 of 20 cochleae (3 of 10 embryos) coil between 1.25 and 1.5 turns, 5 of 20 cochlea (4 of 10 embryos) coil between 1.0 and 1.25 turns, and 4 of 20 cochleae (3 of 10 embryos) coil less than 1.0 turn

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 9 of 20 double heterozygous mutant inner ears (5 of 10 embryos) display significantly smaller posterior ampullae while 2 of 20 (1 of 10 embryos) lack posterior ampullae

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller anterior ampullae

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller lateral ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 3 of 20 double heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (44 available)
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a severely malformed cochlea with severely malformed distal tips

decreased cochlea coiling ( J:119574 )

• at E17.5, 1 of 8 triple heterozygous mutant cochleae (1 of 4 embryos) coil between 1.0 and 1.25 turns, and 7 of 8 cochleae (4 of 4 embryos) coil less than 1.0 turn

abnormal semicircular canal morphology ( J:119574 )

• within the semicircular canals, a narrower lumen is observed in some areas

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display a small posterior semicircular canal while 4 of 8 (3 of 4 embryos) show a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display significantly smaller posterior ampullae while 4 of 8 ears (3 of 4 embryos) lack posterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller anterior ampullae

• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller lateral ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula

small vestibular saccule ( J:119574 )

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 8 triple heterozygous mutant inner ears (1 of 4 embryos) display a truncated endolymphatic duct/sac

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