Mouse Genome Informatics
GL/Le Edardl-J +/+ Ostm1gl/J
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• death occurs between 20 and 30 days of age
• death does not result from starvation, as artificial feeding fails to prolong life significantly

• agouti coat appears grey

• shape and size are abnormal and the back of the lower incisor is found to grow through mental foramen, which becomes very enlarged and forms a protruding bulge from the back end of the incisor
• homozygotes can be recognized at 18 days of gestation by their short lower incisors which do not extend caudally beneath the first lower molar tooth germs
• the uncalcified roots become complexly bent and wrinkled in the mandible and tend to leave the maxilla dorsally through the nerve foramina
• particularly in the lower first molars, which are more compressed laterally
• although there are malformed teeth in their sockets, they do not erupt
• there is a very wide layer of uncalcified matter in the dentine and the roots of teeth remain uncalcified

• calcification of the bone is incomplete, wide layers of uncalcified bone cover many of the spongiosa spicules, all spongiosa formed persists, the periosteal bone is poorly developed
• due to the failure of secondary bone resorption, bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt (J:5561)
• absence of secondary remodelling results in abnormally shaped long limb bones, particularly the proximal end of the humerus and tibia and the distal end of the femur and radius (J:13053)

• no aberrant bleeding time after tail vein nick (J:29151)

• mutants weigh less than their normal littermates from an early age, continue to be nursed by the mother long after the normal littermates are weaned, and even if sustained with a liquid diet they fail to gain weight and waste away

immune system
• non-purulent discharge from the yes makes the eye-lids stick together after they have opened

• non-purulent discharge from the yes makes the eye-lids stick together after they have opened
• mutants often have the eyelids open slightly later than normal

• a pecular gait developes wherein the limbs are stiffly streched so that the belly is far above the floor of the cage

• agouti coat appears grey

Mouse Models of Human Disease
Osteopetrosis, Autosomal Recessive 5; OPTB5 259720 J:5561