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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Lamp1tm1Psa
targeted mutation 1, Paul Saftig
MGI:3053864
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Lamp1tm1Psa/Lamp1tm1Psa involves: 129P2/OlaHsd * C57BL/6 MGI:3053868
cx2
 		Lamp1tm1Psa/Lamp1tm1Psa
Lamp2tm1Psa/Lamp2tm1Psa 		involves: 129P2/OlaHsd * C57BL/6 MGI:3053962
cx3
 		Lamp1tm1Psa/Lamp1tm1Psa
Lamp2tm1Psa/Y 		involves: 129P2/OlaHsd * C57BL/6 MGI:3053963


Genotype
MGI:3053868
hm1
Allelic
Composition		 Lamp1tm1Psa/Lamp1tm1Psa
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamp1tm1Psa mutation (1 available); any Lamp1 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3053962
cx2
Allelic
Composition		 Lamp1tm1Psa/Lamp1tm1Psa
Lamp2tm1Psa/Lamp2tm1Psa
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamp1tm1Psa mutation (1 available); any Lamp1 mutation (29 available)
Lamp2tm1Psa mutation (0 available); any Lamp2 mutation (9 available)
♀ 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
micrognathia ( J:92521 )
• reduced length of maxillary and mandibular portions of jaws

skeleton
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 )




Genotype
MGI:3053963
cx3
Allelic
Composition		 Lamp1tm1Psa/Lamp1tm1Psa
Lamp2tm1Psa/Y
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamp1tm1Psa mutation (1 available); any Lamp1 mutation (29 available)
Lamp2tm1Psa mutation (0 available); any Lamp2 mutation (9 available)
♀ 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 vesicles in the cytoplasm

craniofacial
abnormal craniofacial morphology ( J:92521 )
• variable pattern of defects from relatively normal to complex
micrognathia ( J:92521 )
• reduced length of maxillary and mandibular portions of jaws

skeleton
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 )




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory