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Phenotype: abnormal ear morphology

Definition
any structural anomaly of any of the structures involved in the ear or vestibular system
Synonyms
auditory/ vestibular system abnormalities,  auditory/ vestibular system defects,  ear dysplasia,  ears: dysmorphology
Significant gene associations The way we measure Phenotype stats
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal ear morphology

Total number of significant genotype-phenotype associations: 38

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Abca12
Abca12em1(IMPC)J 		HOM E18.5 abnormal outer ear morphology Outer ear morpholgy
Gross Morphology Embryo E18.5		 JAX
IMPC		 0.00
Alg10b
Alg10btm1.1(KOMP)Vlcg 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 BCM
IMPC		 0.00
Gabpa
Gabpaem2(IMPC)Mbp 		HOM E12.5 abnormal ear morphology Ear Morphology
Gross Morphology Embryo E12.5		 UC Davis
IMPC		 0.00
Kif1b
Kif1btm1b(KOMP)Wtsi 		HOM E18.5 abnormal outer ear morphology Outer ear morpholgy
Gross Morphology Embryo E18.5		 JAX
IMPC		 0.00
Krit1
Krit1tm1.1(KOMP)Vlcg 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 UC Davis
IMPC		 0.00
Pcnp
Pcnpem1(IMPC)Mbp 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 UC Davis
IMPC		 0.00
Pigq
Pigqtm2b(EUCOMM)Wtsi 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 BCM
IMPC		 0.00
Slc25a1
Slc25a1tm1b(EUCOMM)Wtsi 		HOM E12.5 abnormal ear morphology Ear Morphology
Gross Morphology Embryo E12.5		 BCM
IMPC		 0.00
Tbx20
Tbx20em1(IMPC)Mbp 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 UC Davis
IMPC		 0.00
Uqcc3
Uqcc3em1(IMPC)Bay 		HOM E9.5 abnormal otic vesicle morphology Otic vesicle morphology
Gross Morphology Embryo E9.5		 BCM
IMPC		 0.00
Nptn
Nptntm1b(EUCOMM)Hmgu 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 1.91×10-24
Prkra
Prkraem1(IMPC)H 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 4.86×10-22
Elmod1
Elmod1tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 2.17×10-20
Marveld2
Marveld2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 1.18×10-15
Eps8l2
Eps8l2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 3.81×10-14
Klhdc7b
Klhdc7bem1(IMPC)H 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 7.13×10-14
Col9a2
Col9a2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 8.23×10-13
Mgrn1
Mgrn1em1(IMPC)Tcp 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 TCP
IMPC		 1.29×10-11
Il2rb
Il2rbtm1b(EUCOMM)Hmgu 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 ICS
IMPC		 2.29×10-11
Cib2
Cib2tm1b(EUCOMM)Wtsi 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 2.72×10-10
Kcnma1
Kcnma1em1(IMPC)H 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 1.51×10-08
Cib3
Cib3em1(IMPC)H 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 7.75×10-07
Lrba
Lrbaem1(IMPC)Wtsi 		HOM Early adult abnormal ear position Pinna position
Combined SHIRPA and Dysmorphology		 WTSI
IMPC		 6.82×10-06
Kcnj11
Kcnj11tm1b(EUCOMM)Wtsi 		HOM   Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 5.16×10-05
Mpzl2
Mpzl2tm1b(EUCOMM)Hmgu 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 MRC Harwell
IMPC		 5.49×10-05
Grxcr1
Grxcr1em1(IMPC)J 		HOM Early adult abnormal ear morphology Ears
Combined SHIRPA and Dysmorphology		 JAX
IMPC		 7.40×10-05

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 The way we measure

Procedure
Gross Morphology Embryo E12.5
Gross Morphology Embryo E14.5-E15.5
Gross Morphology Embryo E18.5
Gross Morphology Embryo E9.5
Combined SHIRPA and Dysmorphology
Dysmorphology

 Phenotype associations stats

0.78% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal ear morphology (26/3353)

0.59% females (18/3064) 0.62% males (19/3053)

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