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Phenotypes Associated with This Genotype
Genotype
MGI:3623773
Allelic
Composition
Kcnq1tm1Apf/Kcnq1tm1Apf
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq1tm1Apf mutation (0 available); any Kcnq1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cochlear abnormalities in Kcnq1tm1Apf/Kcnq1tm1Apf mice

behavior/neurological
• noticeable by 4 weeks of age (J:66428)
• noticeable by 4 weeks of age (J:66428)
• exhibit repetitive wobbling behavior that is noticeable by 4 weeks of age (J:66428)
• exhibit repetitive wobbling behavior that is noticeable by 4 weeks of age (J:66428)
• nodding is noticeable by 4 weeks of age (J:66428)
• nodding is noticeable by 4 weeks of age (J:66428)
• noticeable by 4 weeks of age (J:66428)
• noticeable by 4 weeks of age (J:66428)

hearing/vestibular/ear
• Reissner membrane is collapsed onto the tectorial membrane (J:66428)
• Reissner membrane is collapsed onto the tectorial membrane (J:66428)
• a denuded basilar membrane forms fibrous adhesions with the tectorial membrane and collapsed Reissner membrane (J:110797)
• a denuded basilar membrane forms fibrous adhesions with the tectorial membrane and collapsed Reissner membrane (J:110797)
• hair cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• hair cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• supporting cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• supporting cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• degeneration is more severe at the basal end (J:66428)
• degeneration is more severe at the basal end (J:66428)
• severe atrophy of the stria vascularis, esp. in the basal turn (J:110797)
• dense deposits of a hyaline material in apical turns, appearing to be an extension of the stria vascularis remnant (J:110797)
• severe atrophy of the stria vascularis, esp. in the basal turn (J:110797)
• dense deposits of a hyaline material in apical turns, appearing to be an extension of the stria vascularis remnant (J:110797)
• 42 to 45% reduction in the total volume of mutant stria vascularis relative to wild-type mice (J:110797)
• 42 to 45% reduction in the total volume of mutant stria vascularis relative to wild-type mice (J:110797)
• the tectorial membrane shows increased density and thickness, esp. in the apical and middle turns, and is absent in the basal turn (J:110797)
• the tectorial membrane shows increased density and thickness, esp. in the apical and middle turns, and is absent in the basal turn (J:110797)
• severe contraction of the scala media, particularly in the basal end (J:66428)
• severe contraction of the scala media, particularly in the basal end (J:66428)
• collapse of Reissner's membrane leads to a 64% and 73% reduction in the volume of scala media relative to wild-type and heterozygous mice, respectively (J:110797)
• collapse of Reissner's membrane leads to a 64% and 73% reduction in the volume of scala media relative to wild-type and heterozygous mice, respectively (J:110797)
• reduction in the volume of the endolymphatic compartment of the semicircular canal, associated with contraction and fibrosis of the membranous lining (J:66428)
• reduction in the volume of the endolymphatic compartment of the semicircular canal, associated with contraction and fibrosis of the membranous lining (J:66428)
• cystic collection of granular debris between adhesions of the outer membrane and the neuroepitheliun of the crista ampullaris (J:110797)
• cystic collection of granular debris between adhesions of the outer membrane and the neuroepitheliun of the crista ampullaris (J:110797)
• reduction in the volume of the endolymphatic compartment of the vestibule, associated with contraction and fibrosis of the membranous lining (J:66428)
• reduction in the volume of the endolymphatic compartment of the vestibule, associated with contraction and fibrosis of the membranous lining (J:66428)
• the saccular macula lacks hair cells (J:110797)
• the saccular macula lacks hair cells (J:110797)
• complete loss of sterocilia in the saccular maculae (J:110797)
• instead, a flat epithelium is found on the surface of the neuroepithelium (J:110797)
• complete loss of sterocilia in the saccular maculae (J:110797)
• instead, a flat epithelium is found on the surface of the neuroepithelium (J:110797)
• the vestibular end organs show collapse of the membranous labyrinth (J:110797)
• the membranous walls of the saccule and utricle are collapsed onto the otolithic membrane (J:110797)
• the vestibular end organs show collapse of the membranous labyrinth (J:110797)
• the membranous walls of the saccule and utricle are collapsed onto the otolithic membrane (J:110797)
• utricular maculae are only modestly degenerated (J:110797)
• utricular maculae are only modestly degenerated (J:110797)
• otoliths lack a homogeneous appearance and resemble stellate-shaped aggregates or a continuous solid mass (J:110797)
• otoliths lack a homogeneous appearance and resemble stellate-shaped aggregates or a continuous solid mass (J:110797)
• the otolithic membrane is separated from the neuroepithelium (J:66428)
• the otolithic membrane is separated from the neuroepithelium (J:66428)
• the otolithic membrane is separated from the neuroepithelium of the macula in both the utricle and the saccule (J:110797)
• the otolithic membrane is separated from the neuroepithelium of the macula in both the utricle and the saccule (J:110797)
• homozygotes exhibit no detectable auditory brainstem responses (ABRs) to clicks presented at 90 db or higher (J:110797)
• in contrast, wild-type mice display ABR thresholds ranging from 41 to 65 dB SPL (J:66428) (J:110797)
• homozygotes exhibit no detectable auditory brainstem responses (ABRs) to clicks presented at 90 db or higher (J:110797)
• in contrast, wild-type mice display ABR thresholds ranging from 41 to 65 dB SPL (J:66428) (J:110797)
• congenital deafness (J:110797)
• congenital deafness (J:110797)

digestive/alimentary system
• intrinsic factor-expressing chief cells appear smaller and are decreased in number (J:66428)
• intrinsic factor-expressing chief cells appear smaller and are decreased in number (J:66428)
• parietal cells are decreased in number (J:66428)
• parietal cells are decreased in number (J:66428)
• expansion of mucous neck cells (J:66428)
• expansion of mucous neck cells (J:66428)
• isthmic regions of the gastric glands are dilated and appear populated by mucin-secreting cells and vacuolated parietal cells (J:66428)
• isthmic regions of the gastric glands are dilated and appear populated by mucin-secreting cells and vacuolated parietal cells (J:66428)
• antral and fundic mucosa show hyperplasia, with changes more striking in the fundus (J:66428)
• majority of fundic hyperplasia occurs in the middle (isthmic) portion of the mucosa and in the gastric neck (proliferative compartment) (J:66428)
• the proliferative compartment of the mucosa is expanded in both the antrum and fundus and is disorganized (J:66428)
• mucosal hyperplasia accounts for the increase in gastric wall thickness (J:66428)
• antral and fundic mucosa show hyperplasia, with changes more striking in the fundus (J:66428)
• majority of fundic hyperplasia occurs in the middle (isthmic) portion of the mucosa and in the gastric neck (proliferative compartment) (J:66428)
• the proliferative compartment of the mucosa is expanded in both the antrum and fundus and is disorganized (J:66428)
• mucosal hyperplasia accounts for the increase in gastric wall thickness (J:66428)
• mucosal hyperplasia accounts for the increase in gastric wall thickness (J:66428)
• mucosal hyperplasia accounts for the increase in gastric wall thickness (J:66428)
• 3-fold enlargement of the stomach (J:66428)
• 3-fold enlargement of the stomach (J:66428)
• gastric lumen pH 6-7 vs. pH 1-2 in wild-type (J:66428)
• gastric lumen pH 6-7 vs. pH 1-2 in wild-type (J:66428)

cardiovascular system
N
• normal cardiac electrophysiology (J:66428)
• normal cardiac electrophysiology (J:66428)

nervous system
• hair cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• hair cells of the organ of Corti are absent and are replaced by fibrous adhesions between the tectorial membrane and the basilar membrane (J:66428)
• the saccular macula lacks hair cells (J:110797)
• the saccular macula lacks hair cells (J:110797)
• complete loss of sterocilia in the saccular maculae (J:110797)
• instead, a flat epithelium is found on the surface of the neuroepithelium (J:110797)
• complete loss of sterocilia in the saccular maculae (J:110797)
• instead, a flat epithelium is found on the surface of the neuroepithelium (J:110797)
• homozygotes exhibit 45% and 48% fewer spinal ganglion cells relative to wild-type and heterozygous mice, respectively (J:110797)
• SGN degeneration occurs in all turns but is most severe in the middle and apical regions (J:110797)
• homozygotes exhibit 45% and 48% fewer spinal ganglion cells relative to wild-type and heterozygous mice, respectively (J:110797)
• SGN degeneration occurs in all turns but is most severe in the middle and apical regions (J:110797)

homeostasis/metabolism
• elevation in serum gastrin levels (J:66428)
• elevation in serum gastrin levels (J:66428)

endocrine/exocrine glands
• intrinsic factor-expressing chief cells appear smaller and are decreased in number (J:66428)
• intrinsic factor-expressing chief cells appear smaller and are decreased in number (J:66428)
• parietal cells are decreased in number (J:66428)
• parietal cells are decreased in number (J:66428)
• expansion of mucous neck cells (J:66428)
• expansion of mucous neck cells (J:66428)
• isthmic regions of the gastric glands are dilated and appear populated by mucin-secreting cells and vacuolated parietal cells (J:66428)
• isthmic regions of the gastric glands are dilated and appear populated by mucin-secreting cells and vacuolated parietal cells (J:66428)


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