All Phenotypes Tg(Rb1)1Blg MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Apaf1^tm1Mak/Apaf1^tm1Mak Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3699923
cx2	Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129S2/SvPas	MGI:4420466
cx3	Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj Rb1^tm1Tyj/Rb1⁺ Tg(Rb1)1Blg/0	involves: 129S2/SvPas	MGI:4420467
cx4	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129S2/SvPas	MGI:4420468
cx5	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0 Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas	MGI:4420470
cx6	E2f1^tm1Meg/E2f1^tm1Meg Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129S2/SvPas * 129S4/SvJae	MGI:4420469
cx7	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6	MGI:3699919
cx8	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0	involves: 129S2/SvPas * C57BL/6	MGI:3699732

Allelic Composition	Apaf1^tm1Mak/Apaf1^tm1Mak Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1^tm1Mak mutation (1 available); any Apaf1 mutation (78 available)
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)

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

hearing/vestibular/ear

increased cochlear hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of cochlear hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

increased vestibular hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of vestibular hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

nervous system

increased cochlear hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of cochlear hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

increased vestibular hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of vestibular hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

Allelic Composition	Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1a^tm1Tyj mutation (3 available); any Cdkn1a mutation (63 available)
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)

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

skeleton

abnormal deltoid tuberosity morphology ( J:65679 )

• less developed in some mice

absent deltoid tuberosity ( J:65679 )

• in some mice

decreased length of long bones ( J:65679 )

• compared with Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal scapula morphology ( J:65679 )

• at E16.5, the scapula is brittle and perforated with unclear boundaries between bone and cartilage compared to in heterozygous mice

abnormal sternocostal joint morphology ( J:65679 )

• at E17.5, ribs join the sternim at a 90 degree angle unlike in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal xiphoid process morphology ( J:65679 )

• at E17.5

abnormal sternum ossification ( J:65679 )

• at E17.5

fragile skeleton ( J:65679 )

muscle

abnormal myogenesis ( J:65679 )

• at E16.5, myotomes undergo nuclei catastrophe and exhibit increased apoptosis compared to in single homozygotes

abnormal skeletal muscle fiber morphology ( J:65679 )

• at E16.5 to E18.5, myotubes exhibit increased nuclear content compared with wild-type myotubes

• at E16.5, myotubes are shorter and more disorganize than in single homozygotes

abnormal muscle physiology ( J:65679 )

• at E16.5, skeletal muscle exhibit an increase in apoptosis compared with Cdkn1a^tm1Tyj/Cdkn1a⁺ Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

behavior/neurological

abnormal posture ( J:65679 )

• more severe than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

hunched posture ( J:65679 )

• more severe than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

cardiovascular system

hemorrhage ( J:65679 )

• at E18.5, embryos exhibit patches of hemorrhage unlike wild-type mice

cellular

polyploidy ( J:65679 )

• at E16.5 to E18.5, myotubes exhibit increased nuclear content compared with wild-type myotubes

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:65679 )

• less developed in some mice

absent deltoid tuberosity ( J:65679 )

• in some mice

Allelic Composition	Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj Rb1^tm1Tyj/Rb1⁺ Tg(Rb1)1Blg/0
Genetic Background	involves: 129S2/SvPas

Find Mice

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

skeleton

abnormal xiphoid process morphology ( J:65679 )

• at E17.5

Allelic Composition	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)

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

muscle

abnormal myogenesis ( J:65679 )

• at E18.5, myotubes express reduced levels of late muscle markers unlike wild-type myotubes

abnormal skeletal muscle fiber morphology ( J:65679 )

• at E18.5, myotubes are unable to exhibit the cell cycle, accumulate enlarged polyploidy nuclei, and express reduced levels of late muscle markers unlike wild-type myotubes

behavior/neurological

abnormal posture ( J:65679 )

hunched posture ( J:65679 )

cellular

polyploidy ( J:65679 )

• at E18.5, myotubes are polyploidy unlike wild-type myotubes

abnormal cell cycle ( J:65679 )

• at E18.5, myotubes are unable to exhibit the cell cycle and accumulate enlarged nuclei unlike wild-type myotubes

Allelic Composition	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0 Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (240 available)

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

mortality/aging

postnatal lethality ( J:65679 )

• fewer than expected mice are obtained (no time point of death given)

muscle

abnormal skeletal muscle fiber morphology ( J:65679 )

• skeletal muscle fibers are no different than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal muscle physiology ( J:65679 )

• at E18.5, skeletal muscle exhibit an increase in apoptosis compared with Rb1^tm1Tyj/Rb1⁺ Tg(Rb1)1Blg mice

behavior/neurological

hyporesponsive to tactile stimuli ( J:65679 )

hunched posture ( J:65679 )

cellular

polyploidy ( J:65679 )

• as in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal cell cycle ( J:65679 )

• as in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice, myotubes are unable to exhibit the cell cycle and accumulate enlarged nuclei unlike wild-type myotubes

abnormal retina apoptosis ( J:65679 )

• lens apoptosis is reduced 10-fold compared to in Rb1^tm1Tyj/Rb1^tm1Tyj Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Rb1)1Blg mice

vision/eye

abnormal retina apoptosis ( J:65679 )

• lens apoptosis is reduced 10-fold compared to in Rb1^tm1Tyj/Rb1^tm1Tyj Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Rb1)1Blg mice

Allelic Composition	E2f1^tm1Meg/E2f1^tm1Meg Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Meg mutation (2 available); any E2f1 mutation (28 available)
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)

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

muscle

abnormal skeletal muscle fiber morphology ( J:65679 )

• skeletal muscle fibers are no different than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal muscle physiology ( J:65679 )

• at E18.5, skeletal muscle exhibit an increase in apoptosis compared with Rb1^tm1Tyj/Rb1⁺ Tg(Rb1)1Blg mice

behavior/neurological

hyporesponsive to tactile stimuli ( J:65679 )

hunched posture ( J:65679 )

cellular

polyploidy ( J:65679 )

• as in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal cell cycle ( J:65679 )

• as in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice, myotubes are unable to exhibit the cell cycle and accumulate enlarged nuclei unlike wild-type myotubes

Allelic Composition	Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Tg(Rb1)1Blg mutation (0 available)

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

hearing/vestibular/ear

increased cochlear hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of cochlear hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

increased vestibular hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of vestibular hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

nervous system

increased cochlear hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of cochlear hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

increased vestibular hair cell number ( J:98518 )

• at E18.5, mutant mice display a similar extent of vestibular hair cell overproduction relative to mice that are homozygous for Rb1^tm1Tyj and hemizygous for Tg(Rb1)#Blg

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

mortality/aging

perinatal lethality, complete penetrance ( J:37145 )

• mutant mice die at birth, indicating partial rescue of the embryonic lethality observed in Rb1^tm1Tyj homozygotes at E13.5-E14.5

muscle

abnormal myogenesis ( J:37145 )

• at E16.5-P0, mutant mice display abnormal myogenesis, with shorter myotubes relative to control mice

• strikingly, when present, mutant myotubes are widely dispersed, and contain enlarged nuclei that are 2-4 times longer than normal

• the number of elongated nuclei increases with time, approaching ~2% and >10% of the myotomal nuclei at E17.5 and E18.5, respectively

• at E17.5, BrdU staining indicates that mutant giant nuclei continue to actively synthesize DNA within myotubes, at a stage when DNA synthesis would have normally ceased

abnormal skeletal muscle morphology ( J:37145 )

• at E16.5-E18.5, TUNEL analysis indicates a significant increase of apoptotic nuclei in mutant skeletal muscles prior to myoblast fusion

• in contrast, no significant increase in apoptosis is noted in mutant cardiac muscles

abnormal skeletal muscle fiber morphology ( J:37145 )

• at E17.5, the myofibrils of mutant limb and tongue muscles are shorter and less abundant, although individual sarcomeric units appear intact

decreased skeletal muscle mass ( J:37145 )

• at birth, mutants exhibit reduced skeletal muscle mass

decreased skeletal muscle fiber density ( J:37145 )

• at E16.5-P0, mutant mice display reduced muscle fiber density in axial, tongue, and limb muscles

behavior/neurological

hunched posture ( J:37145 )

• at E16.5 and P0, mutants display a typical hunchback posture

• however, in contrast to Rb1^tm1Tyj homozygotes, the perichondrium appears normal at E13.5

abnormal stationary movement ( J:37145 )

• at birth, mutants fail to move

skeleton

abnormal spine curvature ( J:37145 )

• at E18.5, mutant mice lack a normal cervical curvature

• however, bones are present and normal in shape

vision/eye

abnormal lens development ( J:37145 )

• at birth, mutant mice exhibit impaired lens development

abnormal lens fiber morphology ( J:37145 )

• at E17.5-P0, mutant mice display significant degeneration of the lens fibers

cellular

polyploidy ( J:98518 )

• in addition to aberrant cochlear and vestibular hair cell proliferation, E18.5 mutant mice exhibit multinucleated and enlarged hair cells in the inner ear sensory epithelia

increased mitotic index ( J:98518 )

• unlike control mice where cells of the organ of Corti and almost all cells of the greater epithelial ridge are postmitotic at E18.5, mutants show ectopic mitoses in the greater epithelial ridge and the region of cochlear inner and outer HCs

• in addition, high numbers of mitotic vestibular hair cells are detected in mutant utricular, saccular, and ampullary sensory epithelia

increased apoptosis ( J:37145 , J:98518 )

• at E16.5-E18.5, TUNEL analysis indicates a significant increase in apoptotic nuclei in mutant axial and tongue muscles (J:37145)

• at E17.5 and E18.5, supernumerary cochlear and vestibular HC production is partially compensated by increased apoptosis in mutant inner ear sensory epithelia (J:98518)

hematopoietic system

abnormal erythropoiesis ( J:37145 )

• in contrast to Rb1^tm1Tyj homozygotes which fail to undergo enucleation of red blood cells, partially rescued mutant mice display only a slight delay in enucleation, with ~2-4% nucleated red blood cells present at E18.5

nervous system

nervous system phenotype ( J:37145 )

N	• at E17.5-P0, mutant mice show a near normal neurogenesis, as shown by normal expression of neuronal markers in brain, trigeminal ganglia, retina, motor neurons, and dorsal root ganglia

increased cochlear hair cell number ( J:98518 )

• at E17.5 and E18.5, mutant mice exhibit excessive proliferation of differentiating cochlear HCs

• at E18.5, the upper basal turn of mutant cochleas shows a 6-fold increase in the numbers of HC nuclei relative to controls

• at birth, mutants display ectopic mitoses in the greater epithelial ridge and the region of cochlear IHCs and OHCs, not present in control mice

• most mitotic cochlear HCs are located near the lumen, while some are found in deeper epithelial layers

• increased mitotic activity and overproduction of cochlear HCs is first evident at E15.5

• at E17.5 and E18.5, supernumerary cochlear HC production is partially compensated by increased apoptosis

increased cochlear inner hair cell number ( J:98518 )

• at E18.5, mutant IHCs are actively cycling, displaying a rounded morphology, typical of dividing cells

increased cochlear outer hair cell number ( J:98518 )

• at E18.5, mutant OHCs are actively cycling, displaying a rounded morphology, typical of dividing cells

abnormal vestibular hair cell morphology ( J:98518 )

• at E17.5 and E18.5, mutants exhibit a hyperplastic vestibular sensory epithelium due to overproduction of HCs

• HCs are abnormally intermixed with supporting cells in the middle layers while the basal part of the epithelium is filled with supernumerary HCs

• some vestibular HCs are mislocated through the basal lamina into the mesenchyme

• a distinct pathology, including multinucleated and enlarged HCs, apoptosis, and infiltration of HCs into the mesenchyme is observed

increased vestibular hair cell number ( J:98518 )

• at E17.5 and E18.5, mutant mice exhibit excessive proliferation of differentiating vestibular HCs

• at E18.5, mutant vestibular HCs are actively cycling, displaying a rounded morphology, typical of dividing cells

• most mitotic vestibular HCs are located at the lumenal surface, but some are found in deeper epithelial levels and in mesenchyme

• increased mitotic activity and overproduction of vestibular HCs is first evident at E14.5

• at E17.5 and E18.5, supernumerary vestibular HC production is partially compensated by increased apoptosis

abnormal vestibular hair cell stereociliary bundle morphology ( J:98518 )

• at birth, mutants display abnormal stereociliary bundle morphologies, particularly in the utricle

• supernumerary vestibular HCs in the deeper epithelial layers and in mesenchyme exhibit disorganized cilia-like protusions and loss of the apicobasal polarity

• however, near-normal stereociliary bundles are also observed, often in ampullae

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:98518 )

• at E17.5 and E18.5, mutant mice exhibit a thickened greater epithelial ridge and a hyperplastic organ of Corti due to excessive hair cell (HC) formation, esp. in the basal half of the cochlea

• however, mutant cochlear HCs exhibit a normal profile of molecules involved in differentiation and maturation

increased cochlear hair cell number ( J:98518 )

• at E17.5 and E18.5, mutant mice exhibit excessive proliferation of differentiating cochlear HCs

• at E18.5, the upper basal turn of mutant cochleas shows a 6-fold increase in the numbers of HC nuclei relative to controls

• at birth, mutants display ectopic mitoses in the greater epithelial ridge and the region of cochlear IHCs and OHCs, not present in control mice

• most mitotic cochlear HCs are located near the lumen, while some are found in deeper epithelial layers

• increased mitotic activity and overproduction of cochlear HCs is first evident at E15.5

• at E17.5 and E18.5, supernumerary cochlear HC production is partially compensated by increased apoptosis

increased cochlear inner hair cell number ( J:98518 )

• at E18.5, mutant IHCs are actively cycling, displaying a rounded morphology, typical of dividing cells

increased cochlear outer hair cell number ( J:98518 )

• at E18.5, mutant OHCs are actively cycling, displaying a rounded morphology, typical of dividing cells

increased organ of Corti supporting cell number ( J:98518 )

• at E17.5 and E18.5, supporting cell numbers are increased, but not to the extent of HC overproduction

• at E18.5, the upper basal turn of mutant cochleas shows a 3-fold increase in the numbers of Deiters' plus pillar cells found below HCs relative to controls

• however, no ectopic mitoses are detected in the mutant supporting cell layer

abnormal vestibular hair cell morphology ( J:98518 )

• at E17.5 and E18.5, mutants exhibit a hyperplastic vestibular sensory epithelium due to overproduction of HCs

• HCs are abnormally intermixed with supporting cells in the middle layers while the basal part of the epithelium is filled with supernumerary HCs

• some vestibular HCs are mislocated through the basal lamina into the mesenchyme

• a distinct pathology, including multinucleated and enlarged HCs, apoptosis, and infiltration of HCs into the mesenchyme is observed

increased vestibular hair cell number ( J:98518 )

• at E17.5 and E18.5, mutant mice exhibit excessive proliferation of differentiating vestibular HCs

• at E18.5, mutant vestibular HCs are actively cycling, displaying a rounded morphology, typical of dividing cells

• most mitotic vestibular HCs are located at the lumenal surface, but some are found in deeper epithelial levels and in mesenchyme

• increased mitotic activity and overproduction of vestibular HCs is first evident at E14.5

• at E17.5 and E18.5, supernumerary vestibular HC production is partially compensated by increased apoptosis

abnormal vestibular hair cell stereociliary bundle morphology ( J:98518 )

• at birth, mutants display abnormal stereociliary bundle morphologies, particularly in the utricle

• supernumerary vestibular HCs in the deeper epithelial layers and in mesenchyme exhibit disorganized cilia-like protusions and loss of the apicobasal polarity

• however, near-normal stereociliary bundles are also observed, often in ampullae

abnormal utricular macula morphology ( J:98518 )

• at birth, the mutant utricular sensory epithelium is hyperplastic due to an excess of HCs, some of which have penetrated into the mesenchyme

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