All Phenotypes Celsr1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Celsr1⁺
wild type
MGI:2434912

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Celsr1^Crsh/Celsr1⁺	C3H.Cg-Celsr1^Crsh	MGI:5661735
ht2	Celsr1^em1(IMPC)Mbp/Celsr1⁺	C57BL/6N-Celsr1^em1(IMPC)Mbp/MbpMmucd	MGI:7266987
ht3	Celsr1^Crsh/Celsr1⁺	involves: 101/H * BALB/c * C3H/HeH	MGI:2668352
ht4	Celsr1^Scy/Celsr1⁺	involves: BALB/cAnN * C3H/He * C3H/HeH	MGI:2668355
ht5	Celsr1^Scy/Celsr1⁺	involves: BALB/cAnNCrl * C3H/HeN	MGI:2174732
cx6	Celsr1^Crsh/Celsr1⁺ Scrib^Crc/Scrib⁺	C3H.Cg-Scrib^Crc Celsr1^Crsh	MGI:5661818
cx7	Celsr1^Scy/Celsr1⁺ Scrib^Crc/Scrib⁺	C3H.Cg-Scrib^Crc Celsr1^Scy	MGI:5661820
cx8	Celsr1^Crsh/Celsr1⁺ Vangl2^Lp/Vangl2⁺	C3H.Cg-Vangl2^Lp Celsr1^Crsh	MGI:5661740
cx9	Celsr1^Crsh/Celsr1⁺ Scrib^Crc/Scrib⁺ Vangl2^Lp/Vangl2⁺	C3H.Cg-Vangl2^Lp Scrib^Crc Celsr1^Crsh	MGI:5661822
cx10	Celsr1^Crsh/Celsr1⁺ Ptk7^chz/Ptk7⁺	involves: 101/H * BALB/c * BALB/cAnN * C3H/HeH	MGI:4830334
cx11	Celsr1^Crsh/Celsr1⁺ Scrib^Crc/Scrib⁺	involves: 101/H * BALB/c * C3H/HeH * C57BL/6 * NMRI	MGI:5661724
cx12	Celsr1^Crsh/Celsr1⁺ Vangl2^Lp/Vangl2⁺	involves: 101/H * BALB/c * C3H/HeH * CBA * LPT/Le	MGI:5661720

Allelic Composition	Celsr1^Crsh/Celsr1⁺
Genetic Background	C3H.Cg-Celsr1^Crsh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (145 available)

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

behavior/neurological

head shaking ( J:216413 )

• Background Sensitivity: shaky-head behavior becomes less penetrant on the C3H/HeH background, seen in 32% of mice

embryo

delayed neural tube closure ( J:216413 )

• embryos exhibit delayed neural tube closure, of about 1.3 somite stages compared to wild-type, however, all embryos initiate closure by the 9-somite stage

nervous system

delayed neural tube closure ( J:216413 )

• embryos exhibit delayed neural tube closure, of about 1.3 somite stages compared to wild-type, however, all embryos initiate closure by the 9-somite stage

Allelic Composition	Celsr1^em1(IMPC)Mbp/Celsr1⁺
Genetic Background	C57BL/6N-Celsr1^em1(IMPC)Mbp/MbpMmucd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^em1(IMPC)Mbp mutation (1 available); any Celsr1 mutation (145 available)

Data Sources

IMPC Data for Celsr1

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

behavior/neurological

no spontaneous movement ( J:211773 )

IMPC - UCD

embryo

abnormal placenta morphology ( J:211773 )

IMPC - UCD

endocrine/exocrine glands

abnormal testis morphology ( J:211773 )

IMPC - UCD

enlarged testis ( J:211773 )

IMPC - UCD

integument

abnormal skin morphology ( J:211773 )

IMPC - UCD

nervous system

abnormal brain morphology ( J:211773 )

IMPC - UCD

increased brain size ( J:211773 )

IMPC - UCD

reproductive system

abnormal testis morphology ( J:211773 )

IMPC - UCD

enlarged testis ( J:211773 )

IMPC - UCD

vision/eye

cataract ( J:211773 )

IMPC - UCD

abnormal retina morphology ( J:211773 )

IMPC - UCD

abnormal vitreous body morphology ( J:211773 )

IMPC - UCD

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (145 available)

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

behavior/neurological

head shaking ( J:84285 , J:216413 )

• Background Sensitivity: shaky-head behavior is more penetrant, seen in 68% of mice, compared to mice on a congenic C3H/HeH background in which 32% exhibit this phenotype (J:216413)

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 mild defects in planar cell polarity of the sensory epithelium

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

• adult heterozygotes display mildly misoriented OHC stereociliary bundles in the apical cochlear relative to Celsr1^Scy heterozygotes, with fewer OHCs being affected

• in contrast, IHC stereociliary bundle orientation remains unaffected

nervous system

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

• adult heterozygotes display mildly misoriented OHC stereociliary bundles in the apical cochlear relative to Celsr1^Scy heterozygotes, with fewer OHCs being affected

• in contrast, IHC stereociliary bundle orientation remains unaffected

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 (145 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 (145 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⁺ Scrib^Crc/Scrib⁺
Genetic Background	C3H.Cg-Scrib^Crc Celsr1^Crsh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (145 available)
Scrib^Crc mutation (3 available); any Scrib mutation (53 available)

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

embryo

abnormal developmental patterning ( J:216413 )

• skewed body axis in some mutants

spina bifida ( J:216413 )

• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids

craniorachischisis ( J:216413 )

• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)

• however, 46% of mutants appear normal

growth/size/body

abnormal abdominal wall morphology ( J:216413 )

• abdominal wall defect in some mutants

limbs/digits/tail

curly tail ( J:216413 )

• 2% of mutants exhibit a looped tail

nervous system

spina bifida ( J:216413 )

• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids

craniorachischisis ( J:216413 )

• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)

• however, 46% of mutants appear normal

exencephaly ( J:216413 )

• isolated exencephaly in 7% of mutants

vision/eye

abnormal eyelid morphology ( J:216413 )

• mutants with craniorachischisis show completely open eyelids at E16.5

abnormal eyelid development ( J:216413 )

• 50% of mutants (5 of 10) exhibit failure of eyelid formation at E16.5

• mutants with craniorachischisis show completely open eyelids

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

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 (145 available)
Scrib^Crc mutation (3 available); any Scrib mutation (53 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

Allelic Composition	Celsr1^Crsh/Celsr1⁺ Vangl2^Lp/Vangl2⁺
Genetic Background	C3H.Cg-Vangl2^Lp Celsr1^Crsh

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (145 available)
Vangl2^Lp mutation (2 available); any Vangl2 mutation (30 available)

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

embryo

abnormal left-right axis patterning ( J:216413 )

• rightward skewing of the embryo, with shortening of the right-hand size compared with the left, suggesting a defect in embryo turning

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

growth/size/body

omphalocele ( J:216413 )

• abdominal wall defect in 11% of mutants, which is likely to be omphalocele/exomphalos

nervous system

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

vision/eye

abnormal eyelid morphology ( J:216413 )

• 3 of 5 mutants fail to close eyelids at E16.5, while others show partial eyelid closure

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

Allelic Composition	Celsr1^Crsh/Celsr1⁺ Scrib^Crc/Scrib⁺ Vangl2^Lp/Vangl2⁺
Genetic Background	C3H.Cg-Vangl2^Lp Scrib^Crc Celsr1^Crsh

Find Mice

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

embryo

craniorachischisis ( J:216413 )

• 2 of 3 mutants exhibit craniorachischisis

limbs/digits/tail

abnormal tail morphology ( J:216413 )

• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect

nervous system

craniorachischisis ( J:216413 )

• 2 of 3 mutants exhibit craniorachischisis

exencephaly ( J:216413 )

• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect

Allelic Composition	Celsr1^Crsh/Celsr1⁺ Ptk7^chz/Ptk7⁺
Genetic Background	involves: 101/H * BALB/c * BALB/cAnN * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1^Crsh mutation (2 available); any Celsr1 mutation (145 available)
Ptk7^chz mutation (2 available); any Ptk7 mutation (59 available)

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

embryo

spina bifida ( J:163834 )

• 6% display spina bifida

nervous system

spina bifida ( J:163834 )

• 6% display spina bifida

Allelic Composition	Celsr1^Crsh/Celsr1⁺ Scrib^Crc/Scrib⁺
Genetic Background	involves: 101/H * BALB/c * C3H/HeH * C57BL/6 * NMRI

Find Mice

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

embryo

craniorachischisis ( J:216413 )

• 8% of embryos develop craniorachischisis

nervous system

craniorachischisis ( J:216413 )

• 8% of embryos develop craniorachischisis

Allelic Composition	Celsr1^Crsh/Celsr1⁺ Vangl2^Lp/Vangl2⁺
Genetic Background	involves: 101/H * BALB/c * C3H/HeH * CBA * LPT/Le

Find Mice

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

embryo

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

limbs/digits/tail

curly tail ( J:216413 )

• the mice that do not develop craniorachischisis exhibit a looped tail

nervous system

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

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