Pde6b<rd1> Spontaneous Allele Detail MGI Mouse (MGI:1856373)

Pde6b^rd1
Spontaneous Allele Detail

Nomenclature

Symbol:	Pde6b^rd1
Name:	phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide; retinal degeneration 1
MGI ID:	MGI:1856373
Synonyms:	Pdeb^rd1, rd, rd-1, rd1, rodless retina
Gene:	Pde6b Location: Chr5:108817410-108861416 bp, + strand Genetic Position: Chr5, 57.0 cM

Retinal degeneration in Pde6b^rd1/Pde6b^rd1, and Pde6b^rd1/Pde6b^rd1 Cry1^tm1Asn/Cry1^tm1Asn Cry2^tm1Asn/Cry2^tm1Asn mouse retinas

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:	Spontaneous
Mutations:	Viral insertion, Single point mutation
	Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C to A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain has also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. (J:4366, J:11513, J:51361)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 77 strains available Cell Lines: 0 lines available
Carrying any Pde6b Mutation:	93 strains or lines available

Expression

In Mice Carrying this Mutation:

3 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems

Genotypes:

behavior/neurological

√

cellular

√

craniofacial

√

hearing/vestibular/ear

√

nervous system

√

pigmentation

√

skin/coat/nails

√

vision/eye

√

Disease Models

√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

Pde6b^rd1/Pde6b^rd1

B.C3-Pde6b^rd1

hm2

Pde6b^rd1/Pde6b^rd1

C3H/HeJ

hm3

Pde6b^rd1/Pde6b^rd1

CB.Cg-Pde6b^rd1

hm4

Pde6b^rd1/Pde6b^rd1

either: C.Cg-Pde6b^rd1 or C3.Cg-Pde6b^rd1

hm5 Disease Model

Pde6b^rd1/Pde6b^rd1

Not Specified

ht6 Disease Model

Pde6b^atrd1/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht7 Disease Model

Pde6b^atrd2/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht8 Disease Model

Pde6b^atrd3/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht9 Disease Model

Pde6b^rd1-1H/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht10 Disease Model

Pde6b^rd1-2H/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht11 Disease Model

Pde6b^rd1-3H/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht12 Disease Model

Pde6b^rd1-4H/Pde6b^rd1

involves: BALB/cAnN * C3H/HeN

ht13

Pde6b^rd1/Pde6b^rgsc1754

involves: C3H * C57BL/6JJcl

cx14

Hps4^le/Hps4^le
Pde6b^rd1/Pde6b^rd1

B6.C3-Pde6b^rd1 Hps4^le

cx15

Pde6b^rd1/Pde6b^rd1
Pde6g^tm1Goff/Pde6g^tm1Goff

either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)

cx16

Pde6b^rd1/Pde6b^rd1
Rho^tm2Jhw/Rho⁺

either: (involves: 129S7/SvEvBrd * C57BL/6J * FVB) or (involves: 129S7/SvEvBrd * C57BL/6-Tyr^c * FVB)

cx17

Pde6b^rd1/Pde6b^rd1
Prph2^Rd2/Prph2^Rd2

either: C.Cg-Pde6b^rd1 Prph2^Rd2 or C3.Cg-Pde6b^rd1 Prph2^Rd2

cx18

Cry1^tm1Asn/Cry1^tm1Asn
Pde6b^rd1/Pde6b^rd1

involves: 129P2/OlaHsd

cx19

Cry2^tm1Asn/Cry2^tm1Asn
Pde6b^rd1/Pde6b^rd1

involves: 129P2/OlaHsd

cx20

Cry1^tm1Asn/Cry1^tm1Asn
Cry2^tm1Asn/Cry2^tm1Asn
Pde6b^rd1/Pde6b^rd1

involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

cx21

Casp3^tm1Flv/Casp3^tm1Flv
Pde6b^rd1/Pde6b^rd1

involves: 129S1 * C3H/FeJ * C57BL/6J

cx22

Opn4^tm1Skay/Opn4^tm1Skay
Pde6b^rd1/Pde6b^rd1

involves: 129S1/SvImJ * C57BL/6

cx23

Pde6b^rd1/Pde6b^rd1
Prph2^Rd2/Prph2^Rd2

involves: C3Hf/HeA * C57BL/LiA * O20/A

tg24

Cacnb2^tm1Rgg/Cacnb2^tm1Rgg
Pde6b^rd1/Pde6b^rd1
Tg(Myh6-Cacnb2)1Rgg/0

involves: 129S7/SvEvBrd * C57BL/6J * FVB

tg25

Pde6b^rd1/Pde6b^rd1
Tg(OPN1LW-DT)1Mame/?

involves: C3H/He * C57BL/6 * C57BL/6J

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
Mouse Models of Human Disease	Note		Allelic Composition	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases associated with human PDE6B.
Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2 OMIM ID: 163500		ht6	Pde6b^atrd1/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht7	Pde6b^atrd2/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht8	Pde6b^atrd3/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht9	Pde6b^rd1-1H/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht10	Pde6b^rd1-2H/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht11	Pde6b^rd1-3H/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		ht12	Pde6b^rd1-4H/Pde6b^rd1	involves: BALB/cAnN * C3H/HeN	J:75964
		hm5	Pde6b^rd1/Pde6b^rd1	Not Specified	J:24999
Models with phenotypic similarity to human diseases not associated with human PDE6B.
Retinitis Pigmentosa; RP OMIM ID: 268000		hm	Pde6b^rd1/Pde6b^rd1	involves: C57BL/6	J:140115

Notes

CBA/J mice carry this allele.

References

Original:	J:24999 Keeler CE, "The inheritance of a retinal abnormality in white mice" Proc Natl Acad Sci U S A 1924 Jul;10(7):329-33
All:	186 reference(s)

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