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Phenotypes Associated with This Genotype
Genotype
MGI:3719582
Allelic
Composition
Thrbtm1.1Syc/Thrbtm1.1Syc
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thrbtm1.1Syc mutation (0 available); any Thrb mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• tibias are 11% shorter at 2 weeks of age and only 2% shorter at 4 weeks, indicating an accelerated growth spurt between these ages (J:103351)
• tibias are 11% shorter at 2 weeks of age and only 2% shorter at 4 weeks, indicating an accelerated growth spurt between these ages (J:103351)
• E17.5 and P1 skeletons show advanced endochondral ossification and are larger than wild-type (J:103351)
• E17.5 and P1 skeletons show advanced endochondral ossification and are larger than wild-type (J:103351)
• advanced ossification of the skull (J:103351)
• advanced ossification of the skull (J:103351)

limbs/digits/tail
• tibias are 11% shorter at 2 weeks of age and only 2% shorter at 4 weeks, indicating an accelerated growth spurt between these ages (J:103351)
• tibias are 11% shorter at 2 weeks of age and only 2% shorter at 4 weeks, indicating an accelerated growth spurt between these ages (J:103351)

hearing/vestibular/ear
• defects in cochlear morphogenesis become evident between P0/P1 and 3 weeks of age (J:124153)
• defects in cochlear morphogenesis become evident between P0/P1 and 3 weeks of age (J:124153)
• at 6 weeks, neither the tunnel of Corti nor the space of Nuel appear to have opened though both inner and outer pillar cells are present in the middle cochlear turn (J:124153)
• at this age, inner and outer pillar cells are not easily recognizable and the fluid spaces are reduced in the basal turn (J:124153)
• at 6 weeks, neither the tunnel of Corti nor the space of Nuel appear to have opened though both inner and outer pillar cells are present in the middle cochlear turn (J:124153)
• at this age, inner and outer pillar cells are not easily recognizable and the fluid spaces are reduced in the basal turn (J:124153)
• at 6 weeks, homozygotes show a highly variable loss of cochlear hair cells ranging from a normal complement to almost complete degeneration in both apical and basal turns (J:124153)
• at 6 weeks, homozygotes show a highly variable loss of cochlear hair cells ranging from a normal complement to almost complete degeneration in both apical and basal turns (J:124153)
• at 6 weeks, an almost complete degeneration of the organ of Corti is noted in the apical cochlear turn (J:124153)
• cells are present along the basilar membrane but no specific cell types are identified (J:124153)
• at 6 weeks, an almost complete degeneration of the organ of Corti is noted in the apical cochlear turn (J:124153)
• cells are present along the basilar membrane but no specific cell types are identified (J:124153)
• at 6 weeks, the tectorial membrane is significantly thickened and shortened, possibly due to the membrane folding back upon itself (J:124153)
• at 6 weeks, the tectorial membrane is significantly thickened and shortened, possibly due to the membrane folding back upon itself (J:124153)
• at 6 weeks, the tectorial membrane does not appear to contact the organ of Corti in any turns of the cochlea (J:124153)
• at 6 weeks, the tectorial membrane does not appear to contact the organ of Corti in any turns of the cochlea (J:124153)
• at 6 weeks, the tectorial membrane is enlarged throughout the cochlear duct; however, a consistent gradient in morphology is observed (J:124153)
• in the basal turn, the tectorial membrane displays the smallest degree of thickening but the highest degree of folding (J:124153)
• in the middle turn, the degree of membrane thickening is increased relative to the basal turn but the level of folding is slightly reduced (J:124153)
• in the apical turn, the highest degree of thickening is observed though the amount of folding is minimal (J:124153)
• at 6 weeks, the tectorial membrane is enlarged throughout the cochlear duct; however, a consistent gradient in morphology is observed (J:124153)
• in the basal turn, the tectorial membrane displays the smallest degree of thickening but the highest degree of folding (J:124153)
• in the middle turn, the degree of membrane thickening is increased relative to the basal turn but the level of folding is slightly reduced (J:124153)
• in the apical turn, the highest degree of thickening is observed though the amount of folding is minimal (J:124153)
• at 3 and 6 weeks of age, homozygotes display significantly elevated ABR thresholds (72-98 dB SPL) in response to click, 8-, 16- and 32-kHz pure tone stimuli relative to wild-type (22-44 dB SPL) or heterozygous (23-43 dB SPL) littermates (J:124153)
• at 3 and 6 weeks of age, homozygotes display significantly elevated ABR thresholds (72-98 dB SPL) in response to click, 8-, 16- and 32-kHz pure tone stimuli relative to wild-type (22-44 dB SPL) or heterozygous (23-43 dB SPL) littermates (J:124153)
• at 6 weeks of age, homozygotes display a severe to profound hearing loss at all test frequencies (J:124153)
• however, no circling, head tossing or other behaviors suggestive of vestibular dysfunction are observed (J:124153)
• at 6 weeks of age, homozygotes display a severe to profound hearing loss at all test frequencies (J:124153)
• however, no circling, head tossing or other behaviors suggestive of vestibular dysfunction are observed (J:124153)

nervous system
• at 6 weeks, homozygotes show a highly variable loss of cochlear hair cells ranging from a normal complement to almost complete degeneration in both apical and basal turns (J:124153)
• at 6 weeks, homozygotes show a highly variable loss of cochlear hair cells ranging from a normal complement to almost complete degeneration in both apical and basal turns (J:124153)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory