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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tubtub
tubby
MGI:1861349
Summary 15 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tubtub/Tubtub B6(AU)-Tubtub/J MGI:2174793
hm2
Tubtub/Tubtub C57BL/6J-Tubtub MGI:3715252
hm3
Tubtub/Tubtub CAST.B6-Tubtub/Jng MGI:6195783
hm4
Tubtub/Tubtub involves: C57BL/6J MGI:3653430
ht5
Tubtub/Tub+ involves: AKR/J * B6(Cg)-Tubtub/J MGI:6195782
cx6
Tg(Map1a)56Pjn/0
Tubtub/Tubtub
B6(AU)-Tubtub Tg(Map1a)56Pjn/Pjn MGI:6753376
cx7
Tubtub/Tub+
Tulp1tm1Pjn/Tulp1+
involves: 129X1/SvJ * C57BL/6J MGI:3841950
cx8
Tubtub/Tubtub
Tulp1tm1Pjn/Tulp1tm1Pjn
involves: 129X1/SvJ * C57BL/6J MGI:2654891
cx9
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
involves: AKR/J * B6(Cg)-Tubtub/J MGI:2175360
cx10
Map1amoth1-s/Map1amoth1-s
Tubtub/Tubtub
involves: AKR/J * B6(Cg)-Tubtub/J MGI:2178916
cx11
Map1aMoth1-r/Map1amoth1-s
Tubtub/Tubtub
involves: AKR/J * B6(Cg)-Tubtub/J MGI:2175361
cx12
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
involves: B6(Cg)-Tubtub/J * B6.129P2-B2mtm1Unc/J MGI:6195788
cx13
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng MGI:2175358
cx14
Map1aMoth1-r/Map1amoth1-s
Tubtub/Tubtub
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng MGI:2175359
cx15
Map1amoth1-s/Map1amoth1-s
Tubtub/Tubtub
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng MGI:6195786


Genotype
MGI:2174793
hm1
Allelic
Composition
Tubtub/Tubtub
Genetic
Background
B6(AU)-Tubtub/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tubtub/Tubtub

growth/size/body
• slowly develop obesity

behavior/neurological
• gradually increase food intake

homeostasis/metabolism
• gradually increase plasma insulin levels over time
• males, but not females, show a moderate increase in cholesterol levels
• elevated in both males and females, although levels are higher in males than females

vision/eye
• arteriolar attenuation, venous dilation by 6 weeks
• severe retinal vessel attenuation and sheathing by 5 months
• granular appearance by 6 weeks
• focal and diffuse loss of pigment epithelium by 5 months
• reduced and disorganized nuclear layer by 3 weeks
• a progressive loss of outer nuclear layers
• contains at most one-third of thickness of cell in this layer compared to normal mice
• no photoreceptors were present by 8 months
• normal organized photoreceptor cell outer segments are not observed at any time
• composed of membranous whirls arranged in an irregular configuration
• a progressive loss of the photoreceptors
• develop progressive retinal degeneration (J:32415)
• pyknotic photoreceptor cell nuclei are observed throughout the first 15 weeks (J:121993)
• rate of photoreceptor loss was constant and both cone and rod photoreceptor cells are degenerated at equal pace (J:121993)
• the rate of degeneration was similar in both the peripheral and central region (J:121993)
• only one to two layers of photoreceptor cell nuclei remained at 15-16 postnatal weeks (J:121993)
• degenerative changes within the inner retina were not observed during first 15 postnatal weeks (J:121993)
• patches of pigment deposits by 5 months
• the electroretinogram in homozygous mutant is never normal
• the waves are poorly developed and have reduced amplitudes compared to normal controls in the higher intensity waveforms
• with lower intensity flashes, the electroretinography exhibited lower amplitudes
• the amplitude loss was progressive and the electroretinogram was extinguished by 6 months

hearing/vestibular/ear
• at the basal end of the cochlea the osseous spiral lamina is partly empty, indicating loss of the afferent processes of the spiral ganglion cells
• a severely degenerated organ of Corti; no hair cells or supporting cells are identifiable
• apparent by 6 postnatal months
• only the innermost row of outer hair cells is seen, suggesting a partial loss of outer hair cells (J:26067)
• any reduction in the number of outer hair cells in the apical half of mutant cochlea at 5-6 months of age is modest (J:26067)
• apparent by 6 postnatal months (J:121993)
• a severely degenerated organ of Corti; no hair cells or supporting cells are identifiable (J:26067)
• degeneration of phalangeal and other support cells was also observed (J:121993)
• a degeneration of organ of Corti in the basal end of the cochlea
• the transition from a well organized organ of Corti with at least a partial complement of inner and outer hair cells, to a mass of undifferentiated cells occurred in the lower basal turn
• apical half of the cochlea are normal with preservation of hair cells, supporting cells, and afferent dendrites
• the features of Reissner's membrane, stria vascularis, and the density of nerve fibers within the modiolus are normal
• Rosenthal's canal, is similar in appearance in all turns
• neither behavioral nor structural evidence of vestibular abnormalities
• some homozygous mutants showed elevated ABR thresholds to clicks and 32-kHz pips at 3 weeks of age
• at 7, 9, and 12 weeks of age, homozygous mutant mice exhibited 20- to 30-dB higher ABR thresholds across all stimuli at click, 8 kHz, 16 kHz, and 32 kHz
• progressive hearing loss, so that by 5-6 months of age, virtually deaf at 90-100 dB (J:121993)

nervous system
• a severely degenerated organ of Corti; no hair cells or supporting cells are identifiable
• apparent by 6 postnatal months
• only the innermost row of outer hair cells is seen, suggesting a partial loss of outer hair cells (J:26067)
• any reduction in the number of outer hair cells in the apical half of mutant cochlea at 5-6 months of age is modest (J:26067)
• apparent by 6 postnatal months (J:121993)
• no photoreceptors were present by 8 months
• normal organized photoreceptor cell outer segments are not observed at any time
• composed of membranous whirls arranged in an irregular configuration
• a progressive loss of the photoreceptors
• at the basal end of the cochlea the osseous spiral lamina is partly empty, indicating loss of the afferent processes of the spiral ganglion cells
• spiral ganglion cell bodies in Rosenthal's canal in the most basal half turn were lost in some cochlea

pigmentation
• granular appearance by 6 weeks
• focal and diffuse loss of pigment epithelium by 5 months

cardiovascular system
• arteriolar attenuation, venous dilation by 6 weeks
• severe retinal vessel attenuation and sheathing by 5 months

skeleton
• at the basal end of the cochlea the osseous spiral lamina is partly empty, indicating loss of the afferent processes of the spiral ganglion cells

craniofacial
• at the basal end of the cochlea the osseous spiral lamina is partly empty, indicating loss of the afferent processes of the spiral ganglion cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
obesity DOID:9970 OMIM:601665
J:32415




Genotype
MGI:3715252
hm2
Allelic
Composition
Tubtub/Tubtub
Genetic
Background
C57BL/6J-Tubtub
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• increased body weight first becomes obvious at 3-4 months of age in males and 4-6 months in females

adipose tissue
• the increase in weight is due to excess adipose tissue associated with all fat deposits

homeostasis/metabolism
• plasma immunoreactive insulin is increased to 2 times the normal prior to signs of obesity
• plasma insulin concentrations increase gradually through out life
• however, blood sugar levels are normal up to 9 months of age, the oldest mice tested
• liver glycogen is slightly increased

endocrine/exocrine glands
• islets of Langerhans are moderately enlarged

immune system
• islets of Langerhans show indication of hyperactivity in the later stages

liver/biliary system
• liver glycogen is slightly increased
• total liver lipids range from 2-3 times the normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
obesity DOID:9970 OMIM:601665
J:13772




Genotype
MGI:6195783
hm3
Allelic
Composition
Tubtub/Tubtub
Genetic
Background
CAST.B6-Tubtub/Jng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:3653430
hm4
Allelic
Composition
Tubtub/Tubtub
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• defect in neuronal ciliary localization of SSTR3 and MCHR1 in the hippocampus CA1 region
• absence of NPY2R in arcuate nucleus cilia; however, overall NPY2R expression levels in the hypothalamus are similar to controls




Genotype
MGI:6195782
ht5
Allelic
Composition
Tubtub/Tub+
Genetic
Background
involves: AKR/J * B6(Cg)-Tubtub/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:6753376
cx6
Allelic
Composition
Tg(Map1a)56Pjn/0
Tubtub/Tubtub
Genetic
Background
B6(AU)-Tubtub Tg(Map1a)56Pjn/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Map1a)56Pjn mutation (1 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: The presence of the 129P2/OlaHsd allele of Map1a from the transgene rescues some of the photoreceptor degeneration that occurs in tubby homozygotes on a predominantly C57BL/6J background, with an average of 126 photoreceptor nuclei remaining in the outer nuclear layer in the presence of the transgene but only 76 in the tubby homozygotes lacking this transgene

hearing/vestibular/ear
• Background Sensitivity: The 129P2/OlaHsd-derived sequence of this transgene rescues much of the hearing loss phenotype of tubby homozygotes on the C57BL/6J background




Genotype
MGI:3841950
cx7
Allelic
Composition
Tubtub/Tub+
Tulp1tm1Pjn/Tulp1+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
Tulp1tm1Pjn mutation (1 available); any Tulp1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• at P20, double heterozygotes display normal retinal histology with no signs of rhodopsin mislocalization in their photoreceptors
• ERGs remain normal up to 6 months of age




Genotype
MGI:2654891
cx8
Allelic
Composition
Tubtub/Tubtub
Tulp1tm1Pjn/Tulp1tm1Pjn
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubtub mutation (3 available); any Tub mutation (36 available)
Tulp1tm1Pjn mutation (1 available); any Tulp1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at P14, the double mutant inner segments are extremely short
• at P14, the double outer segments are absent
• although all retinal layers are normally present at P14, double mutant photoreceptors undergo rapid degeneration by P17, such that the photoreceptor layer is reduced to a single row of nuclei
• this rate of decline is much faster than in either single homozygote alone, where early stages of photoreceptor layer degeneration are observed at P20

nervous system
• at P14, the double mutant inner segments are extremely short
• at P14, the double outer segments are absent
• although all retinal layers are normally present at P14, double mutant photoreceptors undergo rapid degeneration by P17, such that the photoreceptor layer is reduced to a single row of nuclei
• this rate of decline is much faster than in either single homozygote alone, where early stages of photoreceptor layer degeneration are observed at P20




Genotype
MGI:2175360
cx9
Allelic
Composition
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
Genetic
Background
involves: AKR/J * B6(Cg)-Tubtub/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1aMoth1-r mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:2178916
cx10
Allelic
Composition
Map1amoth1-s/Map1amoth1-s
Tubtub/Tubtub
Genetic
Background
involves: AKR/J * B6(Cg)-Tubtub/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1amoth1-s mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear




Genotype
MGI:2175361
cx11
Allelic
Composition
Map1aMoth1-r/Map1amoth1-s
Tubtub/Tubtub
Genetic
Background
involves: AKR/J * B6(Cg)-Tubtub/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1aMoth1-r mutation (0 available); any Map1a mutation (109 available)
Map1amoth1-s mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:6195788
cx12
Allelic
Composition
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
Genetic
Background
involves: B6(Cg)-Tubtub/J * B6.129P2-B2mtm1Unc/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1aMoth1-r mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:2175358
cx13
Allelic
Composition
Map1aMoth1-r/Map1aMoth1-r
Tubtub/Tubtub
Genetic
Background
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1aMoth1-r mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:2175359
cx14
Allelic
Composition
Map1aMoth1-r/Map1amoth1-s
Tubtub/Tubtub
Genetic
Background
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1aMoth1-r mutation (0 available); any Map1a mutation (109 available)
Map1amoth1-s mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• no abnormal ear phenotypes detected




Genotype
MGI:6195786
cx15
Allelic
Composition
Map1amoth1-s/Map1amoth1-s
Tubtub/Tubtub
Genetic
Background
involves: B6(Cg)-Tubtub/J * CAST.B6-Tubtub/Jng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map1amoth1-s mutation (0 available); any Map1a mutation (109 available)
Tubtub mutation (3 available); any Tub mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory