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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MGI:3643902
106 phenotypes from 5 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Gnptabem1(IMPC)Mbp/Gnptab+
C57BL/6N-Gnptabem1(IMPC)Mbp/MbpMmucd
abnormal blood vessel morphology J:211773
abnormal heart morphology J:211773
abnormal kidney morphology J:211773
abnormal lymph node morphology J:211773
abnormal ovary morphology J:211773
abnormal skin morphology J:211773
abnormal spleen morphology J:211773
abnormal stomach morphology J:211773
abnormal uterus morphology J:211773
abnormal vitreous body morphology J:211773
cataract J:211773
enlarged heart J:211773
enlarged kidney J:211773
enlarged lymph nodes J:211773
enlarged ovary J:211773
enlarged spleen J:211773
no spontaneous movement J:211773
small heart J:211773
small kidney J:211773
small stomach J:211773
Gnptabem1(IMPC)Mbp/Gnptabem1(IMPC)Mbp
C57BL/6N-Gnptabem1(IMPC)Mbp/MbpMmucd
abnormal placenta morphology J:211773
abnormal placenta size J:211773
abnormal placenta vasculature J:211773
no spontaneous movement J:211773
preweaning lethality, incomplete penetrance J:211773
GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex
involves: 129S5/SvEvBrd
abnormal enzyme/coenzyme activity J:124928
GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex
involves: 129S5/SvEvBrd * C57BL/6J
abnormal bulbourethral gland morphology J:127156
abnormal chondrocyte morphology J:127156
abnormal circulating enzyme level J:127156
abnormal exocrine gland morphology J:127156
abnormal exocrine pancreas morphology J:127156
abnormal eye electrophysiology J:127156
abnormal lateral nasal gland morphology J:127156
abnormal pancreatic acinar cell zymogen granule morphology J:127156
abnormal parotid gland acinus morphology J:127156
abnormal retina photoreceptor layer morphology J:127156
abnormal submandibular gland morphology J:127156
decreased body length J:127156
decreased body weight J:127156
decreased lean body mass J:127156
retina degeneration J:127156
retina photoreceptor degeneration J:127156
Gnptabnym/Gnptab+
involves: BALB/cAnNHsd * C3H/HeNHsd
no abnormal phenotype detected J:218156
Gnptabnym/Gnptabnym
involves: BALB/cAnNHsd * C3H/HeNHsd
abnormal cerebellar cortex morphology J:218156
abnormal cerebellar molecular layer J:218156
abnormal cerebellum white matter morphology J:218156
abnormal chondrocyte morphology J:218156
abnormal cognition J:218156
abnormal enzyme/coenzyme activity J:218156
abnormal facial morphology J:218156
abnormal fertility/fecundity J:218156
abnormal gait J:218156
abnormal hippocampus CA1 region morphology J:218156
abnormal hippocampus CA3 region morphology J:218156
abnormal pancreas morphology J:218156
abnormal pancreatic acinar cell morphology J:218156
abnormal skeleton morphology J:218156
abnormal skin turgor J:218156
abnormal spine curvature J:218156
astrocytosis J:218156
ataxia J:218156
axonal spheroids J:218156
brain atrophy J:218156
brain inflammation J:218156
cerebellum atrophy J:218156
decreased body size J:218156
decreased brain size J:218156
decreased survivor rate J:218156
demyelination J:218156
flattened snout J:218156
impaired coordination J:218156
kyphosis J:218156
limb grasping J:218156
lysosomal protein accumulation J:218156
penis prolapse J:218156
postnatal growth retardation J:218156
premature death J:218156
prenatal lethality, incomplete penetrance J:218156
progressive muscle weakness J:218156
Purkinje cell axonal dystrophy J:218156
Purkinje cell degeneration J:218156
small nasal bridge J:218156
thick eyelids J:218156
thick skin J:218156
Gnptabtm1Dkji/Gnptabtm1Dkji
involves: 129 * C57BL/6
abnormal cell morphology J:231531
abnormal chondrocyte morphology J:231531
abnormal lysosome morphology J:231531
abnormal salivary gland morphology J:231531
coarse facial features J:231531
decreased body length J:231531
decreased body size J:231531
decreased body weight J:231531
decreased bone mass J:231531
decreased bone mineral content J:231531
decreased bone mineral density J:231531
increased interleukin-6 secretion J:231531
increased lysosomal enzyme secretion J:231531
kyphosis J:231531
postnatal growth retardation J:231531
Gnptabtm1Kkol/Gnptabtm1Kkol
involves: 129 * C57BL/6
abnormal chondrocyte morphology J:202751
abnormal compact bone morphology J:202751
abnormal epiphyseal plate morphology J:202751
abnormal long bone diaphysis morphology J:202751
abnormal lysosome physiology J:202751
abnormal osteoblast morphology J:202751
abnormal osteoclast physiology J:202751
abnormal osteocyte morphology J:202751
abnormal skeleton development J:202751
abnormal skeleton morphology J:202751
decreased body size J:202751
decreased bone mass J:202751
decreased bone mineral density J:202751
decreased osteoblast cell number J:202751
decreased trabecular bone volume J:202751
impaired osteoblast differentiation J:202751
increased bone resorption J:202751
increased circulating type I collagen C-terminal telopeptide level J:202751
increased osteoclast cell number J:202751
osteoporosis J:202751
short vertebral column J:202751
Gnptabtm1Kkol/Gnptabtm1Kkol
Not Specified
abnormal enzyme/coenzyme activity J:162133

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory