All Phenotypes Rbl1<tm1Htr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Rbl1^tm1Htr
targeted mutation 1, Hein te Riele
MGI:2385659

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	E2f1^tm1Meg/E2f1^tm1Meg Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722918
cn2	Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722928
cn3	E2f1^tm1Meg/E2f1^tm1Meg E2f3^tm1.1Gle/E2f3^tm1.1Gle Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722927
cn4	E2f3^tm1.1Gle/E2f3^tm1.1Gle Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722920
cn5	E2f2^tm1Zubi/E2f2^tm1Zubi Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722916
cn6	E2f1^tm1Meg/E2f1⁺ Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?	involves: 129 * C57BL/6 * FVB/N * NMRI	MGI:3722917
cn7	Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Chx10-EGFP/cre,-ALPP)2Clc/?	involves: 129 * C57BL/6 * FVB/N * NMRI * SJL	MGI:3722929
cn8	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1⁺ Trp53^tm1Brn/Trp53^tm1Brn Tg(En2-cre)22Alj/0	involves: 129P2/OlaHsd * CD-1	MGI:3707502
cn9	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1⁺ Tg(En2-cre)22Alj/0	involves: 129P2/OlaHsd * CD-1	MGI:3707499
cn10	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1^tm1Htr Tg(En2-cre)22Alj/0	involves: 129P2/OlaHsd * CD-1	MGI:3707498
cn11	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pcp2-cre)756Mro/0	involves: 129P2/OlaHsd * FVB	MGI:3707500

Allelic Composition	E2f1^tm1Meg/E2f1^tm1Meg Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Meg mutation (2 available); any E2f1 mutation (28 available)
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

abnormal retina morphology ( J:124204 )

• Slc18a3 staining of mature starburst amacrine cells (SACs) is absent from the peripheral retina

• however, retinal transition cell division, rod cell numbers, retinal differentiation and rod function are normal

decreased retina ganglion cell number ( J:124204 )

• mice have slightly fewer ganglion cells at P0

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis

• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer

• Slc18a3 staining of mature SACs is absent from the peripheral retina

• 3.7% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 91% in Rbl1 and E2f3 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• mice have slightly fewer bipolar cells at P18 or P30

• however, the proportion of bipolar cells is normal

abnormal retina inner plexiform layer morphology ( J:124204 )

• only 1 Calb2+ starburst amacrine cell track is detectable instead of 3 normally detected in the inner plexiform layer

thin retina outer nuclear layer ( J:124204 )

• the retinal outer nuclear layer is slightly reduced in thickness at P18 or P30

abnormal cone electrophysiology ( J:124204 )

• photopic response is very slightly reduced

nervous system

decreased retina ganglion cell number ( J:124204 )

• mice have slightly fewer ganglion cells at P0

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis

• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer

• Slc18a3 staining of mature SACs is absent from the peripheral retina

• 3.7% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 91% in Rbl1 and E2f3 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• mice have slightly fewer bipolar cells at P18 or P30

• however, the proportion of bipolar cells is normal

Allelic Composition	Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

abnormal optic nerve morphology ( J:124204 )

• the optic nerve is thin due to the loss of retinal ganglion cells

abnormal eye development ( J:124204 )

• retinal transition (RTC) undergo ectopic DNA synthesis and increased apoptosis

• at P8 or P18 when cell division is completed in the wild-type retina, ectopic RTC divisions are detected

abnormal retina morphology ( J:124204 )

• Slc18a3 staining of mature starburst amacrine cells (SACs) is absent from the peripheral retina

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis

• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer

• Slc18a3 staining of mature SACs is absent from the peripheral retina

• however, SAC survival and process outgrowth is normal

• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective

• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells

abnormal retina inner nuclear layer morphology ( J:124204 )

• after P8, mice exhibit a reduction in Callb2+ starburst amacrine ccell bodies, indicative of amacrine cells

abnormal retina inner plexiform layer morphology ( J:124204 )

• only 1 Calb2+ starburst amacrine cell track is detectable instead of 3 normally detected in the inner plexiform layer

thin retina outer nuclear layer ( J:124204 )

• the outer nuclear layer is thin due to the loss of rods

abnormal cone electrophysiology ( J:124204 )

• light-adapted (photopic) response is defective

abnormal rod electrophysiology ( J:124204 )

• the response to dim light in dark-adapted (scotopic) conditions is defective

nervous system

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis

• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer

• Slc18a3 staining of mature SACs is absent from the peripheral retina

• however, SAC survival and process outgrowth is normal

• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective

• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells

abnormal optic nerve morphology ( J:124204 )

• the optic nerve is thin due to the loss of retinal ganglion cells

Allelic Composition	E2f1^tm1Meg/E2f1^tm1Meg E2f3^tm1.1Gle/E2f3^tm1.1Gle Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Meg mutation (2 available); any E2f1 mutation (28 available)
E2f3^tm1.1Gle mutation (0 available); any E2f3 mutation (33 available)
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

vision/eye phenotype ( J:124204 )

N	• bipolar and ganglion cell death, starburst amacrine cell (SAC) differentiation, and SAC track disorder observed in Rbl1 null, Rbl1/E2f3 null or Rbl1/E2f1 null mice are rescued

Allelic Composition	E2f3^tm1.1Gle/E2f3^tm1.1Gle Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f3^tm1.1Gle mutation (0 available); any E2f3 mutation (33 available)
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells

abnormal amacrine cell morphology ( J:124204 )

• while present, starburst amacrine cell (SAC) tracks are slightly disordered due to a lack of synaptic partner cells

• however, markers of SAC differentiation are restored

• 91% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 3.7% in Rb/E2f1 null mice due to the presence of Camk2a+ ganglion cells that would normally be killed by apoptosis

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells

abnormal eye development ( J:124204 )

• retinal transition cells (RTC) undergo ectopic cell divisions

• however, markers of starburst amacrine cell differentiation are restored

nervous system

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells

abnormal amacrine cell morphology ( J:124204 )

• while present, starburst amacrine cell (SAC) tracks are slightly disordered due to a lack of synaptic partner cells

• however, markers of SAC differentiation are restored

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells

Allelic Composition	E2f2^tm1Zubi/E2f2^tm1Zubi Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f2^tm1Zubi mutation (1 available); any E2f2 mutation (29 available)
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)

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

vision/eye

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells as in Rbl1 null mice

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells as in Rbl1 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells as in Rbl1 null mice

abnormal eye development ( J:124204 )

• retinal transition cells (RTC) undergo ectopic cell divisions as in Rbl1 null mice

nervous system

decreased retina ganglion cell number ( J:124204 )

• apoptosis eliminates most retinal ganglion cells as in Rbl1 null mice

decreased retina rod cell number ( J:124204 )

• apoptosis eliminates many rod cells as in Rbl1 null mice

abnormal retina bipolar cell morphology ( J:124204 )

• apoptosis eliminates most bipolar cells as in Rbl1 null mice

Allelic Composition	E2f1^tm1Meg/E2f1⁺ Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pax6-cre,GFP)2Pgr/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI

Find Mice

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

vision/eye

abnormal eye development ( J:124204 )

• ectopic retinal transition cell division observed in Rbl1 null mice is partially suppressed

Allelic Composition	Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Chx10-EGFP/cre,-ALPP)2Clc/?
Genetic Background	involves: 129 * C57BL/6 * FVB/N * NMRI * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Chx10-EGFP/cre,-ALPP)2Clc mutation (1 available)

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

vision/eye

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation as determined by decrease expression of Chat and Slc18a3

nervous system

abnormal amacrine cell morphology ( J:124204 )

• starburst amacrine cells (SACs) have defects in differentiation as determined by decrease expression of Chat and Slc18a3

Allelic Composition	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1⁺ Trp53^tm1Brn/Trp53^tm1Brn Tg(En2-cre)22Alj/0
Genetic Background	involves: 129P2/OlaHsd * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm2Brn mutation (3 available); any Rb1 mutation (111 available)
Rbl1^tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(En2-cre)22Alj mutation (1 available)
Trp53^tm1Brn mutation (18 available); any Trp53 mutation (240 available)

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

cellular

cellular phenotype ( J:83783 )

N	• mice have similar levels of apoptosis in the cerebella as Rb1, Rbl1 double mutants which express Trp53

Allelic Composition	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1⁺ Tg(En2-cre)22Alj/0
Genetic Background	involves: 129P2/OlaHsd * CD-1

Find Mice

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

behavior/neurological

ataxia ( J:83783 )

• mutants develop ataxia between P15 and P20

nervous system

increased neuron apoptosis ( J:83783 )

• increase in apoptotic rate is seen at P15 in vermis of mutants; most apoptotic cells are found in the inner half of the external granule layer and in the inner granule layer; rate is similar at P30

abnormal neuronal precursor proliferation ( J:83783 )

• at P15, number of proliferating granule cell precursors in external granule layer is higher than in controls

abnormal cerebellum vermis morphology ( J:83783 )

• at P15, the vermis is considerably reduced in size, but less than when both Rbl1 alleles are lost

cerebellum hypoplasia ( J:83783 )

• at P15, size reduction compared to wild-type cerebella is noticed

cellular

increased neuron apoptosis ( J:83783 )

abnormal neuronal precursor proliferation ( J:83783 )

• at P15, number of proliferating granule cell precursors in external granule layer is higher than in controls

Allelic Composition	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1^tm1Htr Tg(En2-cre)22Alj/0
Genetic Background	involves: 129P2/OlaHsd * CD-1

Find Mice

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

behavior/neurological

ataxia ( J:83783 )

• mutants develop ataxia between P15 and P20

nervous system

abnormal neuronal precursor proliferation ( J:83783 )

• increased proliferation is even more pronounced in cerebella of mutants at P15 and 20

abnormal cerebellar cortex morphology ( J:83783 )

• at P20, mice have highly disorganized cerebellar architecture in median cerebellar region

abnormal Purkinje cell morphology ( J:83783 )

• dendritic arborization appears shrunken, with stunted to misoriented dendrites

• cell bodies are poorly aligned with loss of laminar distribution

• occasionally bi-nucleated neurons are observed

thin cerebellar molecular layer ( J:83783 )

• layer is reduce in size

abnormal cerebellum vermis morphology ( J:83783 )

• at P15, the vermis is severely reduced in size

cellular

abnormal neuronal precursor proliferation ( J:83783 )

• increased proliferation is even more pronounced in cerebella of mutants at P15 and 20

Allelic Composition	Rb1^tm2Brn/Rb1^tm2Brn Rbl1^tm1Htr/Rbl1^tm1Htr Tg(Pcp2-cre)756Mro/0
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

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

nervous system

abnormal Purkinje cell morphology ( J:83783 )

• some Purkinje cells show enlarged nuclei with abnormal hourglass or kidney shapes

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