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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Naglutm1Efn
targeted mutation 1, Elizabeth F Neufeld
MGI:1934018
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Naglutm1Efn/Naglutm1Efn either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6) MGI:2651509
hm2
Naglutm1Efn/Naglutm1Efn involves: 129S/SvEv * C57BL/6 MGI:2651494
hm3
Naglutm1Efn/Naglutm1Efn involves: 129S/SvEv * C57BL/6J MGI:3777760


Genotype
MGI:2651509
hm1
Allelic
Composition
Naglutm1Efn/Naglutm1Efn
Genetic
Background
either: (involves: 129S/SvEv * C57BL/6) or (involves: C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naglutm1Efn mutation (1 available); any Naglu mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal inclusions in tissues of Naglutm1Efn/Naglutm1Efn mice

mortality/aging
• homozygotes survive to 8-12 months (J:58950)
• appear normal, healthy, and fertile up to 6 months of age (J:58950)
• homozygotes survive to 8-12 months (J:58950)
• appear normal, healthy, and fertile up to 6 months of age (J:58950)

behavior/neurological
• suppressed open field activity in mice over 4.5 months of age (J:58950)
• suppressed open field activity in mice over 4.5 months of age (J:58950)
• older mice demonstrate a reduced freezing response to the tone used in fear tests (J:58950)
• older mice demonstrate a reduced freezing response to the tone used in fear tests (J:58950)
• difficulty walking after about 6 months of age (J:58950)
• difficulty walking after about 6 months of age (J:58950)

growth/size/body
• weight loss starts to occur at some time after 6 months of age (J:58950)
• weight loss starts to occur at some time after 6 months of age (J:58950)
• after 6 months of age (J:58950)
• after 6 months of age (J:58950)

hematopoietic system
• by 33 days of age, vacuolated macrophages are found in many organs (J:58950)
• vacuolated macrophages become more widely distributed with age to 6 months (J:58950)
• by 33 days of age, vacuolated macrophages are found in many organs (J:58950)
• vacuolated macrophages become more widely distributed with age to 6 months (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)

immune system
• by 33 days of age, vacuolated macrophages are found in many organs (J:58950)
• vacuolated macrophages become more widely distributed with age to 6 months (J:58950)
• by 33 days of age, vacuolated macrophages are found in many organs (J:58950)
• vacuolated macrophages become more widely distributed with age to 6 months (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)

liver/biliary system
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)
• hepatocytes contain many large vacuoles (J:58950)
• hepatocytes contain many large vacuoles (J:58950)

renal/urinary system
• vacuolated glomerular epithelial cells seen by 33 days of age (J:58950)
• extent of vacuolation increases with age to at least 6 months (J:58950)
• vacuolated glomerular epithelial cells seen by 33 days of age (J:58950)
• extent of vacuolation increases with age to at least 6 months (J:58950)
• however, mesangial cells are not vacuolated (J:58950)
• by 33 days of age, epithelial cells are vacuolated in distal but not proximal convoluted tubules, and in Henle's loop (J:58950)
• at 3 to 6 months of age, more prominent vacuolation is seen in tubular epithelial cells as well as interstitial cells (J:58950)
• by 33 days of age, epithelial cells are vacuolated in distal but not proximal convoluted tubules, and in Henle's loop (J:58950)
• at 3 to 6 months of age, more prominent vacuolation is seen in tubular epithelial cells as well as interstitial cells (J:58950)
• however, mesangial cells are not vacuolated (J:58950)
• urinary retention in the bladder starting at 6 months of age (J:58950)
• urinary retention in the bladder starting at 6 months of age (J:58950)

nervous system
• some vacuolated neurons (J:58950)
• some vacuolated neurons (J:58950)
• neurons in the thalamus and the hypothalamus with vacuoles (J:58950)
• neurons in the thalamus and the hypothalamus with vacuoles (J:58950)
• some vacuolated neurons (J:58950)
• some vacuolated neurons (J:58950)
• some areas of the cortex contain vacuolated neurons (J:58950)
• some areas of the cortex contain vacuolated neurons (J:58950)
• accessory olfactory bulb with vacuolated neurons (J:58950)
• accessory olfactory bulb with vacuolated neurons (J:58950)
• olfactory bulb with vacuolated neurons (J:58950)
• olfactory bulb with vacuolated neurons (J:58950)
• neurons of cerebellar nuclei containing one or more inclusions similar to those found in Purkinje cells (J:58950)
• neurons of cerebellar nuclei containing one or more inclusions similar to those found in Purkinje cells (J:58950)
• by 33 days of age, some neurons in various regions of the brain become vacuolated (J:58950)
• extent of vacuolation increases with age (J:58950)
• by 33 days of age, some neurons in various regions of the brain become vacuolated (J:58950)
• extent of vacuolation increases with age (J:58950)
• rather than vacuoles cells may contain one or more large periodic acid/Schiff positive inclusions (J:58950)
• rather than vacuoles cells may contain one or more large periodic acid/Schiff positive inclusions (J:58950)

cardiovascular system
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)
• Kupffer cells are ballooned and contain very few large inclusions (J:58950)

integument
• after 6 months of age (J:58950)
• after 6 months of age (J:58950)
• skin ulceration around the genitalia occurs after 6 months of age (J:58950)
• skin ulceration around the genitalia occurs after 6 months of age (J:58950)

Mouse Models of Human Disease
OMIM ID Ref(s)
Mucopolysaccharidosis, Type IIIB; MPS3B 252920 J:58950




Genotype
MGI:2651494
hm2
Allelic
Composition
Naglutm1Efn/Naglutm1Efn
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naglutm1Efn mutation (1 available); any Naglu mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Electron microscopic examination of the cortex of a Naglutm1Efn/Naglutm1Efn mouse

nervous system
• vacuolated microglial cells sometimes apposed to neurons (J:81974)
• vacuolated microglial cells sometimes apposed to neurons (J:81974)

Mouse Models of Human Disease
OMIM ID Ref(s)
Mucopolysaccharidosis, Type IIIB; MPS3B 252920 J:81974




Genotype
MGI:3777760
hm3
Allelic
Composition
Naglutm1Efn/Naglutm1Efn
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naglutm1Efn mutation (1 available); any Naglu mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Middle ear abnormalities in Naglutm1Efn/Naglutm1Efn mice at 30 weeks of age

mortality/aging
• average age of death is 315-360 days (J:129390)
• average age of death is 315-360 days (J:129390)

cellular
• mutants exhibit lysosomal distention in multiple tissues, including in the middle and inner ear, in the eye, and in the suprachiasmatic nucleus (J:129390)
• mutants exhibit lysosomal distention in multiple tissues, including in the middle and inner ear, in the eye, and in the suprachiasmatic nucleus (J:129390)

behavior/neurological
• percentage of daily activity which occurs during the light portion of the LD cycle is increased in mutants (J:129390)
• percentage of daily activity which occurs during the light portion of the LD cycle is increased in mutants (J:129390)
• mutants differ from wild-type in their phase angle of entrainment (the time from the light offset to the onset of daily locomotor activity); mutants start their daily activity about 1 hour later than wild-type (J:129390)
• mutants differ from wild-type in their phase angle of entrainment (the time from the light offset to the onset of daily locomotor activity); mutants start their daily activity about 1 hour later than wild-type (J:129390)
• rotarod testing shows a progressive inability of older, but not younger, mutants to coordinate movement in a rocking paradigm (J:129390)
• rotarod testing shows a progressive inability of older, but not younger, mutants to coordinate movement in a rocking paradigm (J:129390)

nervous system
• complete loss of hair cells in the lower base coincides with degeneration of the organ of Corti (J:129390)
• complete loss of hair cells in the lower base coincides with degeneration of the organ of Corti (J:129390)
• the suprachiasmatic nucleus (SCN) shows a large number of pyknotic cells with condensed nuclei and cytoplasms and distended lysosomes (J:129390)
• the suprachiasmatic nucleus (SCN) shows a large number of pyknotic cells with condensed nuclei and cytoplasms and distended lysosomes (J:129390)
• age dependent loss of Purkinje cells (J:129390)
• age dependent loss of Purkinje cells (J:129390)
• diffuse decrease in cerebellar Purkinje neuronal counts at the vermis in older, but not younger, mutants (J:129390)
• diffuse decrease in cerebellar Purkinje neuronal counts at the vermis in older, but not younger, mutants (J:129390)
• progressive shortening of the outer segments (J:129390)
• progressive shortening of the outer segments (J:129390)

hearing/vestibular/ear
• inflammatory cells are more likely to appear in the perilymphatic scalae of mutants than wild-type and often show lysosomal storage (J:129390)
• inflammatory cells are more likely to appear in the perilymphatic scalae of mutants than wild-type and often show lysosomal storage (J:129390)
• lysosomal storage is seen in Reissner's membrane (J:129390)
• lysosomal storage is seen in Reissner's membrane (J:129390)
• lysosomal storage in the organ of Corti occurs within outer sulcus cells of the lateral organ and pillar cells of the medial organ (J:129390)
• lysosomal storage in the organ of Corti occurs within outer sulcus cells of the lateral organ and pillar cells of the medial organ (J:129390)
• complete loss of hair cells in the lower base coincides with degeneration of the organ of Corti (J:129390)
• complete loss of hair cells in the lower base coincides with degeneration of the organ of Corti (J:129390)
• lysosomal storage is seen in the spiral ligament (J:129390)
• lysosomal storage is seen in the spiral ligament (J:129390)
• lysosomal storage is seen in the spiral limbus (J:129390)
• lysosomal storage is seen in the spiral limbus (J:129390)
• abnormal lysosomal storage in the crista ampullaris of the lateral semicircular canal (J:129390)
• abnormal lysosomal storage in the crista ampullaris of the lateral semicircular canal (J:129390)
• the vestibular maculae and cristae show prominent lysosome storage in both supporting cells and hair cells and the dark cells of the cristae (J:129390)
• the vestibular maculae and cristae show prominent lysosome storage in both supporting cells and hair cells and the dark cells of the cristae (J:129390)
• middle ears at 30 weeks of age show lysosomal storage-related anomalies (J:129390)
• lysosomal storage is prominent in the mucosal lining and within osteocytes, chondrocytes, and inflammatory cells (J:129390)
• middle ears at 30 weeks of age show lysosomal storage-related anomalies (J:129390)
• lysosomal storage is prominent in the mucosal lining and within osteocytes, chondrocytes, and inflammatory cells (J:129390)
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)
• increase in high frequency ABR thresholds is significantly greater in mutants up to 16 weeks than in controls (J:129390)
• increase in high frequency ABR thresholds is significantly greater in mutants up to 16 weeks than in controls (J:129390)
• auditory brainstem response (ABR) shows progressive hearing deficits (J:129390)
• auditory brainstem response (ABR) shows progressive hearing deficits (J:129390)
• middle ears at 30 weeks of age exhibit highly variable otitis media, with and without effusion (J:129390)
• middle ears at 30 weeks of age exhibit highly variable otitis media, with and without effusion (J:129390)

vision/eye
• aberrant lysosomal storage is seen in the inner retina (J:129390)
• aberrant lysosomal storage is seen in the inner retina (J:129390)
• progressive shortening of the outer segments (J:129390)
• progressive shortening of the outer segments (J:129390)
• localized disruption and inclusions in the retinal pigment epithelium (J:129390)
• localized disruption and inclusions in the retinal pigment epithelium (J:129390)
• progressive reduction of the outer nuclear layer (J:129390)
• progressive reduction of the outer nuclear layer (J:129390)
• lysosomal storage in the sclera (J:129390)
• lysosomal storage in the sclera (J:129390)
• ERG shows a progressive decrease in the amplitude of the dark-adapted b-wave response (J:129390)
• ERG shows a progressive decrease in the amplitude of the dark-adapted b-wave response (J:129390)
• dark-adapted retinal response is depressed by 5 weeks and becomes progressively less sensitive with increasing age, indicating loss of rod function (J:129390)
• however, cone function appears normal (J:129390)
• dark-adapted retinal response is depressed by 5 weeks and becomes progressively less sensitive with increasing age, indicating loss of rod function (J:129390)
• however, cone function appears normal (J:129390)

immune system
• middle ears at 30 weeks of age exhibit highly variable otitis media, with and without effusion (J:129390)
• middle ears at 30 weeks of age exhibit highly variable otitis media, with and without effusion (J:129390)

craniofacial
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)

pigmentation
• localized disruption and inclusions in the retinal pigment epithelium (J:129390)
• localized disruption and inclusions in the retinal pigment epithelium (J:129390)

skeleton
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• thickened mucosal layer on stapes and malleus at 30 weeks of age with hyperplasia of mucosal cells (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)
• bone surface of the stapes is pitted, indicating abnormal bone remodeling (J:129390)
• lysosomal storage is seen in the spiral ligament (J:129390)
• lysosomal storage is seen in the spiral ligament (J:129390)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory