Phenotypes associated with this allele

• Allele Symbol: Fgfr1^Eask
• Allele Name: ear askew
• Allele ID: MGI:3836281
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^Eask/Fgfr1^Eask	BALB/cByJ-Fgfr1^Eask/GrsrJ	MGI:5301820
ht2	Fgfr1^Eask/Fgfr1^+	BALB/cByJ-Fgfr1^Eask/GrsrJ	MGI:5301811

Genotype
MGI:5301820

hm1

• Allelic Composition: Fgfr1^Eask/Fgfr1^Eask
• Genetic Background: BALB/cByJ-Fgfr1^Eask/GrsrJ

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

mortality/aging

prenatal lethality, complete penetrance ( J:179274 )

• zero of 13 embryos from heterozygous intercrosses were homozygous with assessment made at embryonic day 9.5 aand 16.5

Genotype
MGI:5301811

ht2

• Allelic Composition: Fgfr1^Eask/Fgfr1⁺
• Genetic Background: BALB/cByJ-Fgfr1^Eask/GrsrJ

craniofacial

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

hearing/vestibular/ear

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

increased or absent threshold for auditory brainstem response ( J:179274 )

• increased ABR threshold at 6 months of age indicative of severe hearing loss

vision/eye

vision/eye phenotype ( J:179274 )

N • ophthalmoscopic assessment of 2 heterozygotes at 3 months of age found no eye defects

growth/size/body

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:222308