All Phenotypes Six1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Six1⁺
wild type
MGI:2432997

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Six1^Cwe/Six1⁺	C3HeB/FeJ-Six1^Cwe	MGI:3849172
ht2	Six1^em1(IMPC)Mbp/Six1⁺	C57BL/6N-Six1^em1(IMPC)Mbp/MbpMmucd	MGI:6461655
ht3	Six1^tm1Mair/Six1⁺	either: (involves: 129) or (involves: 129 * C57BL/6)	MGI:2673276
ht4	Six1^tm1Mair/Six1⁺	involves: 129 * C57BL/6J	MGI:3715120
cn5	Fgf8^tm1.3Mrt/Fgf8⁺ Six1^tm1(cre)Xli/Six1⁺	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5297340
cx6	Jag1^Mhdahtu/Jag1⁺ Six1^Cwe/Six1⁺	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe	MGI:3849174
cx7	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Rsd/Six1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:2682362
cx8	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297329
cx9	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ	MGI:3054670
cx10	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3054671
cx11	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715225
cx12	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715233

Allelic Composition	Six1^Cwe/Six1⁺
Genetic Background	C3HeB/FeJ-Six1^Cwe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^Cwe mutation (1 available); any Six1 mutation (19 available)

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

behavior/neurological

head shaking ( J:149467 )

• mild

hearing/vestibular/ear

abnormal otic vesicle development ( J:149467 )

• at E10.5, the endolymphatic compartment of the otocyst is slightly enlarged and less pointed than in wild-type mice

increased cochlear inner hair cell number ( J:149467 )

• mice exhibit an increase of inner hair cells along the length of the cochlear duct compared to in wild-type mice

• counts of ectopic second row of inner hair cells are increased in all turns of the cochlea, especially in the apical turn, compared to in wild-type mice

abnormal inner ear vestibule morphology ( J:149467 )

• the eminentium cruciatum is missing from the posterior crista of the vestibular sensory epithelia unlike in wild-type mice

• the sensory patch is more round than in wild-type mice

nervous system

increased cochlear inner hair cell number ( J:149467 )

• mice exhibit an increase of inner hair cells along the length of the cochlear duct compared to in wild-type mice

• counts of ectopic second row of inner hair cells are increased in all turns of the cochlea, especially in the apical turn, compared to in wild-type mice

Allelic Composition	Six1^em1(IMPC)Mbp/Six1⁺
Genetic Background	C57BL/6N-Six1^em1(IMPC)Mbp/MbpMmucd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1^em1(IMPC)Mbp mutation (1 available); any Six1 mutation (19 available)

Data Sources

IMPC Data for Six1

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

cardiovascular system

abnormal blood vessel morphology ( J:211773 )

IMPC - UCD

abnormal placenta vasculature ( J:211773 )

IMPC - UCD

enlarged heart ( J:211773 )

IMPC - UCD

decreased heart rate ( J:211773 )

IMPC - UCD

prolonged RR interval ( J:211773 )

IMPC - UCD

digestive/alimentary system

enlarged cecum ( J:211773 )

IMPC - UCD

embryo

abnormal placenta morphology ( J:211773 )

IMPC - UCD

abnormal placenta vasculature ( J:211773 )

IMPC - UCD

growth/size/body

enlarged heart ( J:211773 )

IMPC - UCD

enlarged kidney ( J:211773 )

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

hematopoietic system

decreased leukocyte cell number ( J:211773 )

IMPC - UCD

abnormal spleen morphology ( J:211773 )

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

small spleen ( J:211773 )

IMPC - UCD

homeostasis/metabolism

decreased circulating calcium level ( J:211773 )

IMPC - UCD

edema ( J:211773 )

IMPC - UCD

immune system

decreased leukocyte cell number ( J:211773 )

IMPC - UCD

abnormal spleen morphology ( J:211773 )

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

small spleen ( J:211773 )

IMPC - UCD

integument

abnormal skin morphology ( J:211773 )

IMPC - UCD

nervous system

decreased prepulse inhibition ( J:211773 )

IMPC - UCD

renal/urinary system

abnormal kidney morphology ( J:211773 )

IMPC - UCD

enlarged kidney ( J:211773 )

IMPC - UCD

small kidney ( J:211773 )

IMPC - UCD

reproductive system

abnormal uterus morphology ( J:211773 )

IMPC - UCD

vision/eye

abnormal retina morphology ( J:211773 )

IMPC - UCD

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 (19 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 (19 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	Fgf8^tm1.3Mrt/Fgf8⁺ Six1^tm1(cre)Xli/Six1⁺
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (25 available)
Six1^tm1(cre)Xli mutation (0 available); any Six1 mutation (19 available)

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

Fgf8^tm1Moon/Fgf8⁺ Six1^tm1(cre)Xli/Six1⁺ newborns exhibit interrupted aortic arch-type B and vascular ring

cardiovascular system

cervical aortic arch ( J:172023 )

interrupted aortic arch ( J:172023 )

abnormal cardiac outflow tract development ( J:172023 )

• 83% display great vessel defects like cervical aortic arch or interrupted aortic arch type B

• embryos have severely hypoplastic proximal and distal outflow tract cushions compared to wild-type controls

Allelic Composition	Jag1^Mhdahtu/Jag1⁺ Six1^Cwe/Six1⁺
Genetic Background	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Mhdahtu mutation (2 available); any Jag1 mutation (78 available)
Six1^Cwe mutation (1 available); any Six1 mutation (19 available)

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

hearing/vestibular/ear

abnormal inner ear canal morphology ( J:149467 )

• anterior and posterior canals are truncated compared to in wild-type mice

• however, lateral canals are normal

abnormal posterior semicircular canal morphology ( J:149467 )

• truncated

abnormal crista ampullaris morphology ( J:149467 )

• mice lack cristae unlike wild-type mice

abnormal superior semicircular canal morphology ( J:149467 )

• truncated

behavior/neurological

head bobbing ( J:149467 )

circling ( J:149467 )

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Rsd/Six1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (57 available)
Six1^tm1Rsd mutation (0 available); any Six1 mutation (19 available)

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

renal/urinary system

renal hypoplasia ( J:86619 )

• double heterozygotes display renal hypoplasia, not observed in single heterozygotes

single kidney ( J:86619 )

• double heterozygotes often display unilateral kidney ablation

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 (57 available)
Six1^tm1Mair mutation (0 available); any Six1 mutation (19 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⁺
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 (57 available)
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (47 available)
Six1^tm1Mair mutation (0 available); any Six1 mutation (19 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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