All Phenotypes Slc12a2<tm2Bhk> MGI Mouse

absent startle reflex ( J:60671 )

• failure to startle in response to noise

ataxia ( J:60671 )

• ataxic gait that severely impaired performance on rotarod

head tossing ( J:60671 )

hyperactivity ( J:60671 )

unidirectional circling ( J:60671 )

• circling in a clockwise direction

abnormal maternal nurturing ( J:60671 )

• pups born to mutant females did not survive

reduced male mating frequency ( J:60671 )

• lower mating frequency putatively due to altered motor activity

decreased male germ cell number ( J:60671 )

• reduced number of spermatids

small testis ( J:60671 )

abnormal spermatogenesis ( J:60671 )

• however, seminiferous tubule formation is normal

azoospermia ( J:60671 )

• spermatozoa absent from the epididymis

abnormal spermatid morphology ( J:60671 )

• acrosomal granule defects observed in spermatids

reduced female fertility ( J:60671 )

• females are generally fertile, though they became pregnant less frequently than wild-type

• normal histology observed in the ovaries, oviducts, and uteri of females

male infertility ( J:60671 )

decreased body size ( J:60671 )

• size discrepancy relative to wild-type becomes less pronounced as mice reach maturity

decreased body weight ( J:60671 )

• 45% decrease in weight relative to wild-type at 14 days of age

abnormal Boettcher cell morphology ( J:106383 )

• severe structural defects in Boettcher cells

• nuclei are present in the normal location but the cytoplasm of cells is almost completely devoid of organelles and cell outlines are difficult to discern

abnormal Reissner membrane morphology ( J:106383 )

• Reissner's membrane consists of 3-4 cell layers instead of the usual two (one mesothelial and one epithelial) seen in wild-type controls

• in some areas, two of the layers resemble epithelial layers, and in others, there appear to be two mesothelial layers

• a substance of unknown composition is found between Reissner's membrane and underlying structures

collapsed Reissner membrane ( J:106383 )

• partial to total collapse of Reissner's membrane onto the underlying stria vascularis, organ of Corti, and tectorial membrane

abnormal interdental cell morphology ( J:106383 )

• interdental cells appear shrunken away from the extracellular matrix of the spiral limbus and are greatly reduced in volume

abnormal membranous labyrinth morphology ( J:106383 )

• large reduction or elimination of the endolymphatic compartment

abnormal organ of Corti morphology ( J:106383 )

• partial collapse of fluid-filled compartments such as the spaces of Nuel and the tunnel of Corti

abnormal cochlear inner hair cell morphology ( J:106383 )

• inner hair cells are extremely difficult to identify

abnormal organ of Corti supporting cell morphology ( J:106383 )

• supporting cells surrounding inner hair cells are extremely difficult to identify

abnormal patterning of the organ of Corti ( J:106383 )

• abnormal orientation and relationships of the cells surrounding the tunnel of Corti

absent tunnel of Corti ( J:106383 )

• reduction or absence of the tunnel of Corti

abnormal type II spiral ligament fibrocytes ( J:106383 )

• type II fibrocytes appear to have less rough endoplasmic reticulum and somewhat larger spaces surrounding the cells than wild type contros

abnormal type IV spiral ligament fibrocytes ( J:106383 )

• type IV fibrocytes appear to have larger extracellular spaces but are otherwise normal

abnormal strial marginal cell morphology ( J:106383 )

• strial marginal cells may have a reduced cellular volume

abnormal tectorial membrane morphology ( J:106383 )

• malformation of the tectorial membrane with a dark granular substance surrounding its edges

absent scala media ( J:106383 )

• partial to almost complete absence of the scala media

abnormal hearing physiology ( J:60671 )