Phenotype Image Detail

Image

Caption

(A and B) Lateral views of wild-type(WT) and Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ embryos at E18. (A,C and D) Subset of Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ mice displayed craniofacial defects (A, top), indicated by the white arrow. (A, Bottom) The wild-type is also shown. (B) Defects in the cranial vault of Gtf2i^Gt(XE029)Byg/Gtf2i⁺ mice. Skeletal preparations of a wild-type mouse (left) and Gtf2i^Gt(XE029)Byg/Gtf2i⁺ littermate (right). The mutant mouse is missing the frontal (f), parietal (p), interparietal (i), and supraoccipital (s) bones. (E) Pigmentation defects in Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ mice. A ventral white patch (melanocyte defects) is noticeable on the belly of some of the mutant mice. (C) Lateral view of Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ mouse at 4 weeks showing kyphosis, and increased backward curvature of the spine in the mutant (top) compared with the wild-type littermate (bottom). (D) Frontal view of the same mice showing hydrocephalus, the characteristic domed head (a wider but longitudinally shorter skull) and lateral displacement of the ears, and a short narrow snout (black bracket) in the Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ mouse (right) compared with the wild-type littermate (left). (F and G) Skeletal staining of Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ mouse shows kyphosis, the curvature of the spine (F, bottom) compared with the wild-type littermate (F, top) and the defective frontonasal suture (G, right). (G) Dorsal view of the snout. The white box marks the frontonasal suture, and the frontopremaxillary suture area is shown in detail in the panel below. The black arrow indicates the wild-type frontonasal suture (left) and the black arrowhead marks the defective frontonasal suture in the Gtf2ird1^Gt(XE465)Byg/Gtf2ird1⁺ (right). The mutant is a different mouse from what is shown in C and D. f, frontal bone; fns, frontonasal suture; n nasal bone; nc, nasal cartilage; pm, premaxillary bone.

Copyright

This image is from Enkhmandakh B, Proc Natl Acad Sci U S A 2009 Jan 6;106(1):181-6. Copyright 2009 National Academy of Sciences, U.S.A. J:143508

Associated Alleles

Symbol	Name
Gtf2i^Gt(XE029)Byg	general transcription factor II I; gene trap XE029, BayGenomics
Gtf2ird1^Gt(XE465)Byg	general transcription factor II I repeat domain-containing 1; gene trap XE465, BayGenomics

Associated Genotypes

Allelic Composition	Genetic Background
Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^+	involves: 129P2/OlaHsd * C57BL/6
Gtf2i^Gt(XE029)Byg/Gtf2i^+	involves: 129P2/OlaHsd * C57BL/6