Mouse Genome Informatics
ot
    Ndptm1Wbrg/Y
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA/CaJ * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea (J:77024)
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels (J:77024)
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex (J:77024)
• approximately two-thirds of strial vessels are lost by 15 months (J:77024)
• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months (J:77024)
• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases (J:77024)
• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months (J:77024)
• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn (J:77024)
• by 15 months, complete loss of marginal cells in some areas (J:77024)
• in severe cases, almost complete degeneration of the stria vascularis by 15 months (J:77024)
• ABRs recorded at 3-4 months, 6-8 months, and 13-15 months indicate elevated thresholds at all test frequencies, with a slightly higher hearing loss at higher frequencies (J:77024)
• progressive hearing loss across all test frequencies, also noted on a 129/Sv background (J:77024)
• hearing loss is initially more severe in the high frequencies but eventually progresses to a relatively flat, profound loss by 15 months (J:77024)
• progressive hearing loss associated with a primary lesion in the stria vascularis (J:77024)

cardiovascular system
• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months (J:77024)
• absence of any vascular development in the outer retina at 13 months (J:77024)
• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea (J:77024)
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels (J:77024)
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex (J:77024)
• approximately two-thirds of strial vessels are lost by 15 months (J:77024)

nervous system
• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months (J:77024)
• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases (J:77024)
• although large vessels are not seen in spiral ganglion vasculature, a poorly developed capillary bed is observed at 3-4 months (J:77024)
• innervation of adjacent vestibular organs remains intact (J:77024)
• slight neuronal loss at 6.5 months and significant spiral ganglion loss by 15 months (J:77024)

vision/eye
• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months (J:77024)
• absence of any vascular development in the outer retina at 13 months (J:77024)

pigmentation
• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn (J:77024)

behavior/neurological
N
• no swimming impairment or behavioral signs indicative of vestibular defects, such as circling or head shaking (J:77024)

skeleton
• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months (J:77024)

Mouse Models of Human Disease
OMIM IDRef(s)
Norrie Disease; ND 310600 J:77024