Phenotypes associated with this allele

• Allele Symbol: Manba^tm1Khf
• Allele Name: targeted mutation 1, Karen H Friderici
• Allele ID: MGI:3617002
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Manba^tm1Khf/Manba^tm1Khf	B6.129-Manba^tm1Khf	MGI:3617198

Genotype
MGI:3617198

hm1

• Allelic Composition: Manba^tm1Khf/Manba^tm1Khf
• Genetic Background: B6.129-Manba^tm1Khf

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

cellular

abnormal lysosome physiology ( J:105427 )

• accumulation of disaccharide is seen in some but not all visceral organs and in the nervous system

nervous system

abnormal choroid plexus morphology ( J:105427 )

• the choroid plexus shows vacuolation

abnormal striatum morphology ( J:105427 )

• the striatum shows some degree of neuronal vacuolation

abnormal amygdala morphology ( J:105427 )

• neuronal vacuolation is present to some extent

abnormal Ammon gyrus morphology ( J:105427 )

• specific segments of Ammon's horn show differences in severity of vacuolation with variation among animals

abnormal cerebral cortex pyramidal cell morphology ( J:105427 )

• severe vacuolation is observed in pyramidal cells of the dorsolateral cerebral cortex

abnormal frontal lobe morphology ( J:105427 )

• accumulation of disaccharide is seen in the frontal cortex

abnormal cerebellum deep nucleus morphology ( J:105427 )

• deep cerebellar nuclei show some vacuolation

abnormal spinal cord morphology ( J:105427 )

• neuronal cell bodies at all levels contain fine intracytoplasmic vacuoles

liver/biliary system

abnormal liver sinusoidal endothelial cell morphology ( J:105427 )

• a few sinusoidal endothelial cells contain fine intracytoplasmic vacuoles

abnormal Kupffer cell morphology ( J:105427 )

• a few Kupffer cells contain fine intracytoplasmic vacuoles

abnormal hepatocyte morphology ( J:105427 )

• very small numbers of hepatocytes had discrete, fine, clear intracytoplasmic vacuoles in mice between 4 and 37 weeks of age

digestive/alimentary system

abnormal duodenum morphology ( J:105427 )

• some intracytoplasmic vacuoles are observed in scattered smooth muscle cells of the outer longitudinal muscle layer and in some neurons of the myenteric plexus

renal/urinary system

abnormal renal tubule morphology ( J:105427 )

• proximal and distal tubules have fine to coarse granules in the apical cytoplasm; however the number of affected cells is small

reproductive system

abnormal epididymis epithelium morphology ( J:105427 )

♂ • small numbers of epithelial cells lining the ducts in the body of the epididymis contain small clear vacuoles in the apical cytoplasm and in some cells, the cytoplasm is filled with fine to coarse vacuoles

♂ • no vacuoles are observed in the head and tail of the epididymis

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:105427 )

• a small number of follicular epithelial cells showed fine intracytoplasmic vacuoles; most cells show no vacuolation

behavior/neurological

behavior/neurological phenotype ( J:105427 )

N • no overt behavioral abnormalities are seen in mice up to 1 year of age

hematopoietic system

abnormal Kupffer cell morphology ( J:105427 )

• a few Kupffer cells contain fine intracytoplasmic vacuoles

immune system

abnormal Kupffer cell morphology ( J:105427 )

• a few Kupffer cells contain fine intracytoplasmic vacuoles

cardiovascular system

abnormal liver sinusoidal endothelial cell morphology ( J:105427 )

• a few sinusoidal endothelial cells contain fine intracytoplasmic vacuoles

abnormal Kupffer cell morphology ( J:105427 )

• a few Kupffer cells contain fine intracytoplasmic vacuoles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta-mannosidosis		DOID:3633	OMIM:248510	J:105427