Phenotype Image Detail

Image

Caption

Effects of Cre-mediated rescue of Chd7 mutation on the arch artery phenotype at E10.5. (A) Wild-type (WT) embryo. Inset shows the normal pharyngeal arch artery (PAA) configuration. (B-E) Chd7^Gt(XK403)Byg/Chd7⁺ (Chd7^+/xk) embryos. (B) Beta-geo expression driven by the Chd7 promoter. (C) Magnified view of the pharyngeal region, showing ubiquitous expression. (D) Ink-injected Chd7^Gt(XK403)Byg/Chd7⁺ embryo, revealing hypoplastic right fourth and sixth PAAs. (E) Reporter expression in all pharyngeal tissues (stronger in endoderm and ectoderm; arrows). Dark staining in arteries is India ink. (F-I) Chd7^Gt(XK403)Byg/Chd7⁺ H2az2^{Tg(Wnt1-cre)11Rth}/0 (Chd7^+/xk;Wnt1Cre) embryos. (F) Loss of reporter expression in neural crest-derived structures. (G) Magnified view of the pharyngeal region, with trap retained in pharyngeal endoderm (arrows). (H) Hypoplastic fourth PAA (arrow). (I) Trap expression was lost in the pharyngeal mesenchyme, but remained in epithelia (arrows). (J-M) Chd7^Gt(XK403)Byg/Chd7⁺ Tg(Tbx1-cre)1Joe/0 (Chd7^+/xk; Tbx1enCre) embryos. Whole-mount embryo (J) and magnified views (K) of the pharyngeal region showed reduced X-gal staining. (L) Hypoplastic right fourth PAA (arrow). (M) Coronal section across pharyngeal region of a Chd7^Gt(XK403)Byg/Chd7⁺ Tg(Tbx1-cre)1Joe/0 embryo. Staining was reduced in core mesoderm, but was retained in ectoderm (red arrow). (N-Q) Chd7^Gt(XK403)Byg/Chd7⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺ (Chd7^+/xk; AP2aIRESCre) embryos. (N) Pharyngeal region, demonstrating loss of reporter staining in pharyngeal mesenchyme, but with staining present in pharyngeal endoderm (arrow). (O and P) Normal PAAs. (Q) Pharyngeal arch section showing loss of reporter activity in ectoderm and neural crest cell-derived mesenchyme, but maintained activity in pharyngeal endoderm (green arrow). dAo, dorsal aorta. Scale bars: 20 mm (A, B, F, and J); 100 um (C-E, G-I, and K-Q).

Copyright

This image is from Randall V, J Clin Invest 2009 Nov;119(11):3301-10 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:154590

Associated Alleles

Symbol	Name
Chd7^Gt(XK403)Byg	chromodomain helicase DNA binding protein 7; gene trap XK403, BayGenomics
H2az2^Tg(Wnt1-cre)11Rth	H2A.Z histone variant 2; transgene insertion 11, David H Rowitch
Tfap2a^tm1(cre)Moon	transcription factor AP-2, alpha; targeted mutation 1, Anne M Moon
Tg(Tbx1-cre)1Joe	transgene insertion 1, Jonathan A Epstein

Associated Genotypes

Allelic Composition	Genetic Background
Chd7^Gt(XK403)Byg/Chd7^+	involves: 129P2/OlaHsd * C57BL/6
Chd7^Gt(XK403)Byg/Chd7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA/J) or (involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1)
Chd7^Gt(XK403)Byg/Chd7^+ Tg(Tbx1-cre)1Joe/0	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
Chd7^Gt(XK403)Byg/Chd7^+ Tfap2a^tm1(cre)Moon/Tfap2a^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)