Phenotypes Associated with This Genotype

Genotype
MGI:3053962

• Allelic Composition: Lamp1^tm1Psa/Lamp1^tm1Psa; Lamp2^tm1Psa/Lamp2^tm1Psa
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

prenatal lethality, complete penetrance ( J:92521 )

♀ • no double knockout mice are born

cellular

abnormal lysosome morphology ( J:92521 )

♀ • higher frequency of cytoplasmic autophagic vacuoles

♀ • frequently found in vascular endothelium,Schwann cells, neuroepithelium, hepatocytes and fibroblasts during starvation

♀ • lysosomes with decreased density

♀ • massive accumulation of cholesterol containing vescilcels in the cytoplasm

craniofacial

abnormal craniofacial morphology ( J:92521 )

♀ • variable pattern of defects from relatively normal to complex

abnormal jaw morphology ( J:92521 )

♀

short mandible ( J:92521 )

♀

short maxilla ( J:92521 )

♀

micrognathia ( J:92521 )

♀ • reduced length of maxillary and mandibular portions of jaws

shortened head ( J:92521 )

♀

skeleton

abnormal jaw morphology ( J:92521 )

♀

short mandible ( J:92521 )

♀

short maxilla ( J:92521 )

♀

micrognathia ( J:92521 )

♀ • reduced length of maxillary and mandibular portions of jaws

nervous system

decreased forebrain size ( J:92521 )

♀ • foreshortened forebrain

integument

absent vibrissae ( J:92521 )

♀ • anlagen of vibrissae are absent

growth/size/body

shortened head ( J:92521 )

♀