Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1Hspy mutation
(1 available);
any
Fgfr1 mutation
(221 available)
|
|
|
E8.5 Fgfr1Hspy/Fgfr1Hspy embryos show a restriction at the embryonic/extra-embryonic boundary (arrow)
mortality/aging
embryo
growth/size/body
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1Hspy mutation
(1 available);
any
Fgfr1 mutation
(221 available)
|
|
|
Abnormal stapes morphology in Fgfr1Hspy/Fgfr1+ mice
hearing/vestibular/ear
|
N |
• mice exhibit normal malleus
|
|
|
• 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
|
|
|
• mice show variable ear size, ranging from normal to small pinna
|
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
|
|
|
• some skulls have curved noses
|
|
|
• some mice haave shorter skulls
|
|
|
• 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
|
|
|
• mice show variable ear size, ranging from normal to small pinna
|
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
|
|
• some skulls have curved noses
|
|
|
• some mice haave shorter skulls
|
|
|
• 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
|
|
|
• mice show variable ear size, ranging from normal to small pinna
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1Hspy mutation
(1 available);
any
Fgfr1 mutation
(221 available)
|
|
|
hearing/vestibular/ear
|
N |
• Background Sensitivity: unlike on a coisogenic C3HeB/FeJ background, all mice exhibit normal incus
• mice exhibit normal malleus
|
|
|
• 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
|
Allelic
Composition |
Fgfr1Hspy/Fgfr1+
|
|
Genetic
Background |
C3HeB/FeJ-Hspy |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1Hspy mutation
(1 available);
any
Fgfr1 mutation
(221 available)
|
|
|
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
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• 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
|
|
|
• the length of the nasal bone 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 stapes bilaterally
|
|
|
• small incus body in some cases
|
|
|
• absent lenticular process in some cases
|
|
|
• short incus long process in some cases
|
|
|
• small incus short process in some cases
|
|
|
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus
|
|
|
• absence of stapes posterior crus in some cases
|
|
|
• absence of stapes head in some cases
|
|
|
• 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
|
|
|
• bullae had thickened, vascular bone over the round window area
|
|
|
• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice
|
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• 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
|
|
|
• small incus body in some cases
|
|
|
• absent lenticular process in some cases
|
|
|
• short incus long process in some cases
|
|
|
• small incus short process in some cases
|
|
|
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus
|
|
|
• absence of stapes posterior crus in some cases
|
|
|
• absence of stapes head in some cases
|
|
|
• 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
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• round window was small or not visible in 13 out of 20 adults
|
|
|
• 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
|
|
|
• the length of the nasal bone 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 stapes bilaterally
|
|
|
• small incus body in some cases
|
|
|
• absent lenticular process in some cases
|
|
|
• short incus long process in some cases
|
|
|
• small incus short process in some cases
|
|
|
• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus
|
|
|
• absence of stapes posterior crus in some cases
|
|
|
• absence of stapes head in some cases
|
|
|
• fused incudostapedial joint in some cases
|
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
|
respiratory system
|
|
• the length of the nasal bone was significantly shorter than in controls
|
mortality/aging
|
|
• 2 mice were recovered at P0 (1 dead), suggesting perinatal or early postnatal lethality
|
|
|
• no mice were recovered at weaning (0/55)
|
growth/size/body
|
|
• at E16.5, mice showed cleft palate with variable penetrance
|
|
|
• at E16.5, mice showed choanal atresia with variable penetrance
|
craniofacial
|
|
• at E16.5, mice showed cleft palate with variable penetrance
|
|
|
• at E16.5, mice showed choanal atresia with variable penetrance
|
cardiovascular system
|
|
• at E16.5, mice showed a heart defect with variable penetrance
|
digestive/alimentary system
|
|
• at E16.5, mice showed cleft palate with variable penetrance
|
respiratory system
|
|
• at E16.5, mice showed choanal atresia with variable penetrance
|
nervous system
|
N |
• mice showed a normal distribution of the GnRH1 neurons at E16.5
• mice do NOT display olfactory bulb defects
|
reproductive system
|
N |
• mice do NOT display hypogonadotropic hypogonadism
|
Analysis Tools