Phenotypes for Tg(Pax3-cre)1Joe Trpm7 MGI:6220898 MGI Mouse

kidney cyst ( J:181963 )

• at P12, many large renal cysts are observed, unlike in control kidneys

• small cysts first emerge at P4; no cysts are observed at P2

kidney cortex cyst ( J:181963 )

• proximal tubular cysts emerge at P4

• no cysts associated with connecting tubules, distal convoluted tubules, or collecting ducts are observed

decreased renal glomerulus number ( J:181963 )

• at E18.5 and P12, very few glomeruli are observed, unlike in control kidneys

abnormal kidney development ( J:181963 )

small kidney ( J:181963 )

• at E14.5 and E18.5, kidneys are smaller than those of controls

• at P12, kidneys are less than half the size of control kidneys

abnormal nephron morphogenesis ( J:181963 )

• at E14.5, only spherical renal vesicles are present while comma- and S-shaped bodies are clearly absent, unlike in control kidneys

abnormal S-shaped body morphology ( J:181963 )

• at E14.5, S-shaped bodies are absent

abnormal comma shaped body morphology ( J:181963 )

• at E14.5, comma-shaped bodies are absent

abnormal renal tubule morphology ( J:181963 )

• at P2, eosinophilic acellulal material consistent with protein is present in the lumen of dilated renal tubules and the basement membrane is disrupted around dilated tubules

dilated renal tubule ( J:181963 )

• at P2, dilated tubules are observed in the renal cortex, unlike in control kidneys

kidney failure ( J:181963 )

• mice exhibit progressive kidney failure

abnormal hair follicle melanocyte morphology ( J:181963 )

• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region

• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk

absent hair follicle melanin granules ( J:181963 )

• at P2, pigment in hair follicles is reduced only in the lower trunk

abnormal rostrocaudal coat patterning ( J:181963 )

• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice

decreased melanocyte number ( J:181963 )

• toluidine blue staining of P2 dorsal lumbar skin sections shows loss of pigment cells in the lower trunk relative to wild-type controls

• immunohistochemistry of P2 dorsal lumbar skin sections confirmed drastic loss of microphthalmia-associated transcription factor (MiTF)-positive or DCT-positive pigment cells in the lower trunk

hypopigmentation ( J:181963 )

• at P2 and P12, mice exhibit loss of pigmentation only in the lower trunk

abnormal hair follicle melanocyte morphology ( J:181963 )

• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region

• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk

absent hair follicle melanin granules ( J:181963 )

• at P2, pigment in hair follicles is reduced only in the lower trunk

abnormal rostrocaudal coat patterning ( J:181963 )

• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice

impaired limb coordination ( J:181963 )

• mice drag their hind legs in a kneeling posture

hindlimb paralysis ( J:181963 )

• hind legs are paralyzed

• however, forelimbs appear normal

paresis ( J:181963 )

• at P2 and P12, mice exhibit paresis of only the hind legs

decreased sensory neuron number ( J:181963 )

• at P2, lumbar DRG shows loss of large-diameter DRG sensory neurons

small dorsal root ganglion ( J:181963 )

• at E18.5, lumbar dorsal root ganglion (DRG) shows normal gray/white matter distributions but smaller cross-sectional areas