Phenotype Image Detail

Image

Caption

A; Lateral view of E16.5 normal (+/+), Hspg2^tm1Ref/Hspg2⁺ (+/-), and Hspg2^tm1Ref/Hspg2^tm1Ref (-/-^a, -/-^b) embryos. Loss of perlecan results in disproportionate dwarfism with short limbs, neck and snout. Some homozygotes have domed skull (-/-^a), others lack the roof of the skull and exhibit exencephaly (-/-^b). B: Alcian blue/alizarin red stained skeletons of normal, heterozygous and mutant E17.5 embryos. The skeleton of heterozygotes is normal. The spine of homozygous mutants is short and siplays severe kyphoscoliosis, the the thorax is narrow, and the ribs, vertebrae, and long bones are malformed. Embryos with exencephaly (-/-^b) lack frontal and parietal bones of the skull. C-F: Comparative histological analysis of developing hindlimbs from normal (C and E) and homozygotes (D and F). Sagittal sections from E14 (C and D) and E16.5 (E and F) embryos stained with hematoxylin and eosin. At E14, the mutant tibia (ti) and fibula (fi) are short, thick, and curved (D). At E16.5, the mutant tibia (F) is short and thick, the metaphyseal bone is extremely reduced, and the growth plate is disorganized. Abbreviations: ec, epiphyseal cartilage; p, zone of proliferative chondrocytes; h, zone of hypertrophic chondrocytes; bc, bone cavity. Bar: C-F, 100um.

Copyright

This image is from Costell M, J Cell Biol 1999 Nov 29;147(5):1109-22, and is displayed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License. J:58700

Associated Alleles

Symbol	Name
Hspg2^tm1Ref	perlecan (heparan sulfate proteoglycan 2); targeted mutation 1, Reinhard Fassler

Associated Genotypes

Allelic Composition	Genetic Background
Hspg2^tm1Ref/Hspg2^tm1Ref	involves: 129S1/Sv * 129X1/SvJ