All Phenotypes Rp1<tm1Jnz> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rp1^tm1Jnz/Rp1^tm1Jnz	involves: 129S7/SvEvBrd	MGI:3038333
ht2	Rp1^tm1Jnz/Rp1⁺	involves: 129S7/SvEvBrd	MGI:4354114
ht3	Rp1^tm1Jnz/Rp1^tm1Eap	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3653031
cx4	Rp1^tm1Jnz/Rp1⁺ Rp1l1^tm1Jnz/Rp1l1⁺	involves: 129S7/SvEvBrd	MGI:4354113

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

Progressive degeneration of photoreceptors of Rp1^tm1Jnz/Rp1^tm1Jnz mice

vision/eye

abnormal ocular fundus morphology ( J:76071 )

• optic nerve pallor and smaller retinal blood vessels

abnormal retina photoreceptor morphology ( J:76071 )

• abnormalities are found in both rods and cones

decreased retina photoreceptor cell number ( J:76071 )

• after 21 days of age there is a significant drop in the number of photoreceptors

• reduced by 50% by 3 months of age

• apoptosis levels are higher among photoreceptors

abnormal photoreceptor outer segment morphology ( J:76071 , J:109781 )

• length of outer segment normal until about 25 days of age after which progressive degeneration begins; by 9 months, the length is negligible (J:76071)

• discs and whorls in the outer segment are variable in size and lack correct orientation; by 9 months few discs and whorls remain (J:76071)

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments (J:109781)

retina cone cell degeneration ( J:76071 )

• cone degeneration takes place more slowly than in rods, not significant before 10 months of age

abnormal eye physiology ( J:76071 )

• progressive dysfunction of rods and cones begins at around 2 months and continues throughout the first year of life

abnormal rod electrophysiology ( J:151463 )

• single photon response amplitude is elevated 1.6-fold compared to controls

• time to peak to single-photon stimulus is 1.2 fold longer than controls

• amplitudes of saturating responses are significantly decreased by 45%

nervous system

abnormal retina photoreceptor morphology ( J:76071 )

• abnormalities are found in both rods and cones

decreased retina photoreceptor cell number ( J:76071 )

• after 21 days of age there is a significant drop in the number of photoreceptors

• reduced by 50% by 3 months of age

• apoptosis levels are higher among photoreceptors

abnormal photoreceptor outer segment morphology ( J:76071 , J:109781 )

• length of outer segment normal until about 25 days of age after which progressive degeneration begins; by 9 months, the length is negligible (J:76071)

• discs and whorls in the outer segment are variable in size and lack correct orientation; by 9 months few discs and whorls remain (J:76071)

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments (J:109781)

retina cone cell degeneration ( J:76071 )

• cone degeneration takes place more slowly than in rods, not significant before 10 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 1		DOID:0110390	OMIM:180100	J:76071

Allelic Composition	Rp1^tm1Jnz/Rp1⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1^tm1Jnz mutation (0 available); any Rp1 mutation (121 available)

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

vision/eye

abnormal rod electrophysiology ( J:151463 )

• maximum scoptic a-wave amplitudes are slightly reduced at 6 months of age

• flash sensitivity of rod photoreceptors is reduced about 50% at 3-4 weeks of age

• amplitudes of saturating responses are significantly decreased by 22%

Allelic Composition	Rp1^tm1Jnz/Rp1^tm1Eap
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1^tm1Eap mutation (0 available); any Rp1 mutation (121 available)
Rp1^tm1Jnz mutation (0 available); any Rp1 mutation (121 available)

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

vision/eye

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

nervous system

abnormal photoreceptor outer segment morphology ( J:109781 )

• accumulation of short stacks of enlarged disoriented discs in place of organized outer segments

Allelic Composition	Rp1^tm1Jnz/Rp1⁺ Rp1l1^tm1Jnz/Rp1l1⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rp1l1^tm1Jnz mutation (0 available); any Rp1l1 mutation (79 available)
Rp1^tm1Jnz mutation (0 available); any Rp1 mutation (121 available)

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

vision/eye

abnormal photoreceptor outer segment morphology ( J:151463 )

• mice at 6 months of age have OS abnormalities similar to Rp1l1^tm1Jnz homozygotes

• 16% of mice have swirling discs in the OS compared to under 3% for controls

abnormal rod electrophysiology ( J:151463 )

• the a-wave amplitudes of 6 month old mice are similar to those in Rp1l1^tm1Jnz homozygotes (i.e. 70% of normal)

• flash sensitivity of rod photoreceptors is reduced about 50% at 3-4 weeks of age

nervous system

abnormal photoreceptor outer segment morphology ( J:151463 )

• mice at 6 months of age have OS abnormalities similar to Rp1l1^tm1Jnz homozygotes

• 16% of mice have swirling discs in the OS compared to under 3% for controls

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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