Phenotype Image Detail

Image

Caption

Non-polyalanine repeat expansion mutation Phox2b mice display phenotypes reminiscent of congenital central hypoventilation syndrome-Hirschsprung disease-neuroblastoma (CCHS-HSCR-NB) association. (C) Phox2b immunostaining (top) of the hindbrain sections (E18.5) and Nissl staining of the adjacent sections (bottom). Structure of both nVII (arrows) and RTN/pFRG (arrowheads in wild-type [WT]) is severely disrupted in the Phox2b^tm1.1Heno/Phox2b⁺ (Phox2b^del5/+) and Phox2b^tm2.1Heno/Phox2b⁺ (Phox2b^del8/+) mice. (D) Whole-mount acetylcholine esterase staining of the gut. Note the oligoganglionosis and aganglionosis of the colon in Phox2b^tm1.1Heno/Phox2b⁺ (Phox2b^del5/+) and Phox2b^tm2.1Heno/Phox2b⁺ (Phox2b^del8/+) mice, respectively. Thick nerve bundles seen in the colon of Phox2b^tm2.1Heno/Phox2b⁺ (Phox2b^del8/+) mutants are extrinsic nerve fibers that failed to defasciculate due to the absence of the enteric ganglia. (E and F) Whole mount tyrosine hydroxylase (TH) staining of the thorax (E) and pararenal areas (F). Arrowheads indicate aberrantly located ganglia. Note that individual ganglia of the thoracic chain (dotted circles in bottom panels of E) of the mutants are smaller in size and harbor thinner nerve fibers than those of wild-type (WT). Scale bars: 100 um (C, D [intestine and colon]); 330 um (E, [bottom panels]); 1 mm (D [stomach], E [top panels], F).

Copyright

This image is from Nagashimada M, J Clin Invest 2012 Sep 4;122(9):3145-58 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:190742

Associated Alleles

Symbol	Name
Phox2b^tm1.1Heno	paired-like homeobox 2b; targeted mutation 1.1, Hideki Enomoto
Phox2b^tm2.1Heno	paired-like homeobox 2b; targeted mutation 2.1, Hideki Enomoto

Associated Genotypes

Allelic Composition	Genetic Background
Phox2b^tm1.1Heno/Phox2b^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
Phox2b^tm2.1Heno/Phox2b^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)