Mouse Genome Informatics
hm1
    Fgfr1Hspy/Fgfr1Hspy
C3HeB/FeJ-Fgfr1Hspy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

embryogenesis

growth/size/body


Mouse Genome Informatics
ht2
    Fgfr1Hspy/Fgfr1+
(C3HeB/FeJ-Fgfr1Hspy x C57BL/6J)F1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
N
• Background Sensitivity: unlike on a coisogenic C3HeB/FeJ background, all mice exhibit normal incus (J:171915)
• mice exhibit normal malleus (J:171915)
• Background Sensitivity: one mouse on a background containing C57BL/6J exhibited unilateral stapes defect compared with 27 of 28 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral stapes defects
• Background Sensitivity: 2 of 31 mice on a background containing C57BL/6J exhibit bilateral pinna defects compared with 15 of 23 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral pinna defects

craniofacial
• Background Sensitivity: one mouse on a background containing C57BL/6J exhibited unilateral stapes defect compared with 27 of 28 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral stapes defects
• Background Sensitivity: 2 of 31 mice on a background containing C57BL/6J exhibit bilateral pinna defects compared with 15 of 23 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral pinna defects

skeleton
• Background Sensitivity: one mouse on a background containing C57BL/6J exhibited unilateral stapes defect compared with 27 of 28 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral stapes defects

growth/size/body
• Background Sensitivity: 2 of 31 mice on a background containing C57BL/6J exhibit bilateral pinna defects compared with 15 of 23 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral pinna defects


Mouse Genome Informatics
ht3
    Fgfr1Hspy/Fgfr1+
C3HeB/FeJ-Fgfr1Hspy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
N
• mice exhibit normal malleus (J:171915)
• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J
• Background Sensitivity: 27 of 28 and 27 of 27 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, stapes defects compared with one mouse on a background containing C57BL/6J
• Background Sensitivity: 17 of 23 and 15 of 23 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, pinna defects compared with 2 of 31 mice on a background containing C57BL/6J

craniofacial
• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J
• Background Sensitivity: 27 of 28 and 27 of 27 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, stapes defects compared with one mouse on a background containing C57BL/6J
• Background Sensitivity: 17 of 23 and 15 of 23 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, pinna defects compared with 2 of 31 mice on a background containing C57BL/6J

skeleton
• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J
• Background Sensitivity: 27 of 28 and 27 of 27 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, stapes defects compared with one mouse on a background containing C57BL/6J

growth/size/body
• Background Sensitivity: 17 of 23 and 15 of 23 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, pinna defects compared with 2 of 31 mice on a background containing C57BL/6J


Mouse Genome Informatics
ht4
    Fgfr1Hspy/Fgfr1+
C3HeB/FeJ-Hspy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• 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
• 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
• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls
• 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 stepes bilaterally
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus
• the length of the nasal bone was significantly shorter than in controls
• unilateral and bilateral pinna defects
• pinnae were more low-set than controls
• pinnae were batted or pointed
• exhibited excessive cerumen in the external ear canal
• pinnae were smaller than in controls

hearing/vestibular/ear
• unilateral and bilateral pinna defects
• pinnae were more low-set than controls
• pinnae were batted or pointed
• exhibited excessive cerumen in the external ear canal
• pinnae were smaller than in controls
• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice
• 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 stepes bilaterally
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus
• round window was small or not visible in 13 out of 20 adults
• bullae had thickened, vascular bone over the round window area
• 2 out of 6 mutants had endocochlear potentials below the normal range
• showed a wide range in the thresholds for compound action potentials (reflecting cochlear nerve activity) that were all increased in comparison to controls
• 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
• 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
• 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
• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls
• 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 stepes bilaterally
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

nervous system
• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice
• 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
• the length of the nasal bone was significantly shorter than in controls
• unilateral and bilateral pinna defects
• pinnae were more low-set than controls
• pinnae were batted or pointed
• exhibited excessive cerumen in the external ear canal
• pinnae were smaller than in controls

Mouse Models of Human Disease
OMIM IDRef(s)
Otitis Media, Susceptibility to 166760 J:95895