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Phenotypes Associated with This Genotype
Genotype
MGI:3805735
Allelic
Composition
Tomtm1Btlr/Tomtm1Btlr
Genetic
Background
C57BL/6J-Tomtm1Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tomtm1Btlr mutation (1 available); any Tomt mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygous mutant male mice caged together exhibit heightened inter-male aggression, fighting with and inflicting wounds on each other
• at 8 weeks of age, mutant mice exhibit no acoustic startle response to a 120 dB sound
• mutant mice perform poorly in the lateral beam test
• this behavior is suppressed when the mice are sleeping or nursing
• mutant mice exhibit repetitive brief backward bending of the neck so that the head's long axis is vertical ("stargazing")
• this behavior is suppressed when the mice are sleeping or nursing
• evident by three weeks of age
• this behavior is suppressed when the mice are sleeping or nursing
• evident by three weeks of age

hearing/vestibular/ear
• revealed by scanning electron microscopy in four day old mice
• progressive loss of inner hair cells (IHC)
• progressive loss of outer hair cells
• mutant mice exhibit progressive degeneration of the organ of Corti
• in five day old mice the inner ear appears histologically normal by light microscopy, but by 8 weeks severe degenerative changes are evident
• 8 week old mutant mice exhibit no acoustic brainstem response (ABR) at 90 dB, vs. an ABR threshold of ~40 dB in wild-type control mice
• the DPOAE of 8 week old mutant mice in response to stimuli at 0-70 dB and 6-28 kHz is within noise level

nervous system
N
• the cerebra of mutant mice appear histologically normal by light microscopy
• revealed by scanning electron microscopy in four day old mice
• progressive loss of inner hair cells (IHC)
• progressive loss of outer hair cells
• the density of spiral ganglion neurons appears normal in four day old mice, but has decreased by 8 weeks

growth/size/body
• homozygous mutant mice are leaner than their unaffected littermates; this may be due to their higher activity level

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 63 DOID:0110515 OMIM:611451
J:137493


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory