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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pitpna
phosphatidylinositol transfer protein, alpha
MGI:99887
44 phenotypes from 3 alleles in 5 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
PitpnaGt(OST1152)Lex/PitpnaGt(OST1152)Lex
involves: 129S5/SvEvBrd 		abnormal abdominal fat pad morphology J:85204
abnormal apoptosis J:85204
abnormal brainstem morphology J:85204
abnormal cerebellum morphology J:85204
abnormal enterocyte morphology J:85204
abnormal hepatocyte morphology J:85204
abnormal inguinal fat pad morphology J:85204
abnormal intestinal epithelium morphology J:85204
abnormal intestinal lipid absorption J:85204
abnormal pancreatic islet morphology J:85204
abnormal Purkinje cell morphology J:85204
abnormal spinal cord morphology J:85204
abnormal spinal cord ventral horn morphology J:85204
abnormal spinal cord white matter morphology J:85204
abnormal vitamin E level J:85204
ataxia J:85204
decreased body weight J:85204
decreased circulating glucagon level J:85204
decreased circulating insulin level J:85204
decreased circulating triglyceride level J:85204
decreased glycogen catabolism rate J:85204
decreased pancreatic islet number J:85204
demyelination J:85204
hypoglycemia J:85204
increased circulating alkaline phosphatase level J:85204
increased circulating aspartate transaminase level J:85204
increased circulating bilirubin level J:85204
increased circulating corticosterone level J:85204
microvesicular hepatic steatosis J:85204
neonatal lethality, incomplete penetrance J:85204
neurodegeneration J:85204
postnatal growth retardation J:85204
postnatal lethality J:85204
seizures J:85204
tremors J:85204
Pitpnatm1Vab/Pitpnatm1Vab
involves: 129S7/SvEvBrd 		abnormal abdominal fat pad morphology J:85204
abnormal brainstem morphology J:85204
abnormal cerebellum morphology J:85204
abnormal enterocyte morphology J:85204
abnormal hepatocyte morphology J:85204
abnormal inguinal fat pad morphology J:85204
abnormal intestinal epithelium morphology J:85204
abnormal intestinal lipid absorption J:85204
abnormal pancreatic islet morphology J:85204
abnormal Purkinje cell morphology J:85204
abnormal spinal cord morphology J:85204
abnormal spinal cord ventral horn morphology J:85204
abnormal spinal cord white matter morphology J:85204
abnormal vitamin absorption J:85204
ataxia J:85204
decreased body weight J:85204
decreased circulating glucagon level J:85204
decreased circulating insulin level J:85204
decreased circulating triglyceride level J:85204
decreased glycogen catabolism rate J:85204
decreased pancreatic islet number J:85204
demyelination J:85204
hypoglycemia J:85204
increased circulating alkaline phosphatase level J:85204
increased circulating aspartate transaminase level J:85204
increased circulating bilirubin level J:85204
increased circulating corticosterone level J:85204
increased hindbrain apoptosis J:85204
microvesicular hepatic steatosis J:85204
neonatal lethality, incomplete penetrance J:85204
neurodegeneration J:85204
postnatal growth retardation J:85204
postnatal lethality, complete penetrance J:85204
seizures J:85204
tremors J:85204
Pitpnavb/Pitpnavb
B6C3Fe 		abnormal neuron morphology J:40754
abnormal spinal cord morphology J:40754
chromatolysis J:40754
neuron degeneration J:40754
premature death J:40754
tremors J:40754
Pitpnavb/Pitpnavb
involves: C3HeB/Fe * C57BL/6J * DBA/2J 		neuron degeneration J:40754
Pitpnavb/Pitpnavb
involves: C57BL/6J * DBA/2J 		abnormal cerebellum morphology J:6896
abnormal motor coordination/balance J:6896
abnormal neuron morphology J:86371
lethality, complete penetrance J:6896
neuron degeneration J:6896
tremors J:6896
Contributing Projects:
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
12/10/2024
MGI 6.24 		The Jackson Laboratory