All Phenotypes Six1<Cwe> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Six1^Cwe/Six1^Cwe	C3HeB/FeJ-Six1^Cwe	MGI:3849173
ht2	Six1^Cwe/Six1⁺	C3HeB/FeJ-Six1^Cwe	MGI:3849172
cx3	Jag1^Mhdahtu/Jag1⁺ Six1^Cwe/Six1⁺	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe	MGI:3849174

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

hearing/vestibular/ear

absent incus ( J:149467 )

• at E16.5

abnormal cochlea morphology ( J:149467 )

• the cochlea is severely truncated and oval and round windows are absent compared to in wild-type mice

decreased cochlear inner hair cell number ( J:149467 )

• at E16.5, development of hair cells is disrupted compared to in wild-type mice

• at P21, utricles exhibit few hair cells unlike in wild-type mice

• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice

• however, the utricle contained a small patch of scattered hair cells

abnormal inner ear canal morphology ( J:149467 )

• ear canals are thin or truncated compared to in wild-type mice

• the anterior canal is truncated at the ampullar end unlike in wild-type mice

abnormal common crus morphology ( J:149467 )

• broadened

absent lateral semicircular canal ( J:149467 )

abnormal crista ampullaris morphology ( J:149467 )

• the posterior crista ampularis is absent

small utricle ( J:149467 )

small vestibular saccule ( J:149467 )

inner ear hypoplasia ( J:149467 )

behavior/neurological

absent pinna reflex ( J:149467 )

impaired righting response ( J:149467 )

limb grasping ( J:149467 )

• when held by their tail, mice curl up towards their belly and displayed jiggling behavior unlike wild-type mice

head shaking ( J:149467 )

• extreme

circling ( J:149467 )

growth/size/body

decreased body size ( J:149467 )

decreased body weight ( J:149467 )

renal/urinary system

renal hypoplasia ( J:149467 )

• 41% of mice exhibit a unilateral hypoplastic kidney

craniofacial

absent incus ( J:149467 )

• at E16.5

skeleton

absent incus ( J:149467 )

• at E16.5

nervous system

decreased cochlear inner hair cell number ( J:149467 )

• at E16.5, development of hair cells is disrupted compared to in wild-type mice

• at P21, utricles exhibit few hair cells unlike in wild-type mice

• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice

• however, the utricle contained a small patch of scattered hair cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
branchiootorenal syndrome		DOID:14702		J:149467

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	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 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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