Phenotype Image Detail

Image

Caption

Abnormalities of bone and heart development in Nipbl^{Gt(RRS564)Byg}/Nipbl⁺ mice. (A,B) Cranial and trunk skeleton at E17.5, stained with alcian blue/alizarin red (blue staining shows cartilage; red shows bone). (A) Wild-type (+/+) and (B) Nipbl^{Gt(RRS564)Byg}/Nipbl⁺ (+/-). Arrows indicate locations at which ossification is delayed in the mutant. (C) Forepaws at E16.5. Skeletal elements are patterned normally in the mutant, but are smaller. (D) Forepaws at E18.5. Delayed ossification is readily seen in mutant metacarpals and phalanges. Scale bars in (A-D) = 2 mm. (E) Long bone length and degree of ossification at E18.5. For each bone, wild-type measurements are shown in the left bar, mutant in the right. The filled portion of each bar depicts the ossified fraction of the bone. Data are averaged independent measurements in each case (N = 14 for most measurements, with the exception of wild-type scapula [N = 9], mutant scapula [N = 13], and mutant femur [N = 11]. In mutant mice, long bones are ~10% shorter than wild-type, and the degree of ossification is decreased by 5-7%. (F,G) Elbow joints of representative wild-type (F) and mutant (G) embryos at E18.5. The olecranon process (arrow) is longer and more pointed in the mutant. (H-K) Defects in cardiac septum formation. The developing atrial septum primum and septum secundum are readily apparent in wild-type heart at E15.5[(H), arrow] but reduced in mutant embryos at the same age (I). At E17.5, a well-formed atrial septum is apparent in wild-type [(J), arrow], but absent in many mutants (K). Scale bars in (G,I,K) = 1 mm.

Copyright

This image is from Kawauchi S, PLoS Genet 2009 Sep;5(9):e1000650, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:154117

Associated Alleles

Symbol	Name
Nipbl^Gt(RRS564)Byg	NIPBL cohesin loading factor; gene trap RRS564, BayGenomics

Associated Genotypes

Allelic Composition	Genetic Background
Nipbl^Gt(RRS564)Byg/Nipbl^+	involves: 129P2/OlaHsd * CD-1