All Phenotypes Celsr1<Scy> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Celsr1^Scy/Celsr1^Scy	involves: BALB/cAnN * C3H/He * C3H/HeH	MGI:2668356
ht2	Celsr1^Scy/Celsr1⁺	involves: BALB/cAnN * C3H/He * C3H/HeH	MGI:2668355
ht3	Celsr1^Scy/Celsr1⁺	involves: BALB/cAnNCrl * C3H/HeN	MGI:2174732
ht4	Celsr1^Crsh/Celsr1^Scy	involves: 101/H * BALB/c * C3H/He * C3H/HeH	MGI:3690972
cx5	Celsr1^Scy/Celsr1⁺ Scrib^Crc/Scrib⁺	C3H.Cg-Scrib^Crc Celsr1^Scy	MGI:5661820

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

mortality/aging

perinatal lethality, complete penetrance ( J:84285 )

• homozygotes die perinatally, as a result of craniorachischisis

nervous system

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions

incomplete rostral neuropore closure ( J:84285 )

• at E8.5 (~10 somite stage), homozygotes fail to initiate neural tube closure in the prospective cervical region (closure-1)

• however, neural tube closure in the forebrain and rostral midbrain occurs normally

craniorachischisis ( J:84285 )

• at E12.5, the neural tube is open from the midbrain/hindbrain boundary throughout the spine

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• at E18.5, homozygotes display extensive rotation of OHC stereociliary bundles along the entire length of the cochlear duct

• orientation of OHC bundles is random, including some bundles with a rotation of ~180 relative to the normal plane of orientation

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundle orientation remains unaffected

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:84285 )

• homozygotes exhibit severe defects in planar cell polarity of the sensory epithelium

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• at E18.5, homozygotes display extensive rotation of OHC stereociliary bundles along the entire length of the cochlear duct

• orientation of OHC bundles is random, including some bundles with a rotation of ~180 relative to the normal plane of orientation

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundle orientation remains unaffected

vision/eye

absent eyelids ( J:84285 )

• homozygous fetuses often exhibit a delay or failure of eyelid closure

• at E17.5, homozygotes exhibit absence of eyelids

embryo

incomplete rostral neuropore closure ( J:84285 )

• at E8.5 (~10 somite stage), homozygotes fail to initiate neural tube closure in the prospective cervical region (closure-1)

• however, neural tube closure in the forebrain and rostral midbrain occurs normally

craniorachischisis ( J:84285 )

• at E12.5, the neural tube is open from the midbrain/hindbrain boundary throughout the spine

cellular

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions

Allelic Composition	Celsr1^Scy/Celsr1⁺
Genetic Background	involves: BALB/cAnN * C3H/He * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Scy mutation (2 available); any Celsr1 mutation (146 available)

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

behavior/neurological

head shaking ( J:84285 )

spinning ( J:84285 )

• heterozygotes exhibit belly curling and spinning during tail suspension

• however, no obvious peripheral vestibular defects are detected in adulthood

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:84285 )

• heterozygotes exhibit a positive Preyer's reflex in response to a 20 kHz, 90 dB SPL tone burst, indicating that they are not profoundly deaf

• however, heterozygotes show defects in planar cell polarity of the sensory epithelium

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• at E18.5 and 3-5 months, heterozygotes display excessive misoriented OHC stereociliary bundles, esp. in the apical cochlear turn relative to wild-type mice (apex 3.60%, base 1.68% rotated vs apex 0.66%, base 0.18% rotated, respectively)

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundles remain unaffected

cochlear outer hair cell degeneration ( J:84285 )

• at 3-5 months, heterozygotes show minimal OHC degeneration in the basal cochlear turn

• however, no significant loss of OHCs is noted in the apex

abnormal organ of Corti supporting cell morphology ( J:84285 )

• at E18.5 and 3-5 months, heterozygotes display distortion of the upper surfaces of supporting cells that are immediately adjacent to misoriented OHCs

nervous system

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundles remain unaffected

cochlear outer hair cell degeneration ( J:84285 )

• at 3-5 months, heterozygotes show minimal OHC degeneration in the basal cochlear turn

• however, no significant loss of OHCs is noted in the apex

Allelic Composition	Celsr1^Scy/Celsr1⁺
Genetic Background	involves: BALB/cAnNCrl * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Scy mutation (2 available); any Celsr1 mutation (146 available)

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

behavior/neurological

abnormal involuntary movement ( J:63816 )

• heterozygotes exhibit fits

head bobbing ( J:63816 )

Allelic Composition	Celsr1^Crsh/Celsr1^Scy
Genetic Background	involves: 101/H * BALB/c * C3H/He * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (146 available)
Celsr1^Scy mutation (2 available); any Celsr1 mutation (146 available)

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

nervous system

craniorachischisis ( J:84285 )

• at E13.5, craniorachischisis is indistinguishable from that of single homozygotes

embryo

craniorachischisis ( J:84285 )

• at E13.5, craniorachischisis is indistinguishable from that of single homozygotes

Allelic Composition	Celsr1^Scy/Celsr1⁺ Scrib^Crc/Scrib⁺
Genetic Background	C3H.Cg-Scrib^Crc Celsr1^Scy

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Scy mutation (2 available); any Celsr1 mutation (146 available)
Scrib^Crc mutation (3 available); any Scrib mutation (54 available)

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

embryo

craniorachischisis ( J:216413 )

• 62% mutants exhibit craniorachischisis, most often isolated (in 56% of mutants), but sometimes associated with abdominal wall defect (6% of mutants)

• however, 39% mutants appear normal

growth/size/body

abnormal abdominal wall morphology ( J:216413 )

• 1 of 18 mutants with craniorachischisis show an abdominal wall defect

nervous system

craniorachischisis ( J:216413 )

• 62% mutants exhibit craniorachischisis, most often isolated (in 56% of mutants), but sometimes associated with abdominal wall defect (6% of mutants)

• however, 39% mutants appear normal

vision/eye

abnormal eyelid morphology ( J:216413 )

• some mutants with craniorachischisis show eyelid closure defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:216413

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