Phenotypes Associated with This Genotype

Genotype
MGI:3574963

• Allelic Composition: Fgfr1^Hspy/Fgfr1⁺
• Genetic Background: C3HeB/FeJ-Hspy

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

behavior/neurological

abnormal pinna reflex ( J:95895 )

• 3 out of 4 mutants with bilateral pinna defects demonstrated weak Preyer reflex bilaterally and some mutants with unilateral pinna defects exhibited an asymmetrical reduced or absent Preyer reflex

craniofacial

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

small cranium ( J:95895 )

• significantly smaller in the longitudinal length of skull, length of the nasal bones from the tip of snout to the nasion, the mandibular ramus measured from the tip of the incisors to the angle of mandible and in the ratio of the longitudinal length of the skull to the inerparietal distance, indicating a shorter anteroposterior dimension of the skull but not a globally smaller skull

short mandible ( J:95895 )

• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

hearing/vestibular/ear

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

abnormal auditory bulla morphology ( J:95895 )

• bullae had thickened, vascular bone over the round window area

abnormal inner ear morphology ( J:95895 )

decreased cochlear outer hair cell number ( J:95895 )

• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice

abnormal middle ear morphology ( J:95895 )

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal ear physiology ( J:95895 )

decreased endocochlear potential ( J:95895 )

• 2 out of 6 mutants had endocochlear potentials below the normal range

abnormal cochlear nerve compound action potential ( J:95895 )

• showed a wide range in the thresholds for compound action potentials (reflecting cochlear nerve activity) that were all increased in comparison to controls

increased susceptibility to otitis media ( J:95895 )

• all mutants showed some sign of middle ear inflammation, ranging from a thin membranous covering lining the middle ear cavity to a middle ear filled with fluid or pus

immune system

increased susceptibility to otitis media ( J:95895 )

• all mutants showed some sign of middle ear inflammation, ranging from a thin membranous covering lining the middle ear cavity to a middle ear filled with fluid or pus

skeleton

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

small cranium ( J:95895 )

• significantly smaller in the longitudinal length of skull, length of the nasal bones from the tip of snout to the nasion, the mandibular ramus measured from the tip of the incisors to the angle of mandible and in the ratio of the longitudinal length of the skull to the inerparietal distance, indicating a shorter anteroposterior dimension of the skull but not a globally smaller skull

short mandible ( J:95895 )

• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal incudostapedial joint morphology ( J:95895 )

• fused incudostapedial joint in some cases

nervous system

decreased cochlear outer hair cell number ( J:95895 )

• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice

abnormal cochlear nerve compound action potential ( J:95895 )

• showed a wide range in the thresholds for compound action potentials (reflecting cochlear nerve activity) that were all increased in comparison to controls

growth/size/body

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

respiratory system

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:95895