Phenotypes Associated with This Genotype

Genotype
MGI:5301811

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

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

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