All Phenotypes Ocrl<tm1Nbm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ocrl^tm1Nbm
targeted mutation 1, Robert L Nussbaum
MGI:2159611

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ocrl^tm1Nbm/Ocrl^tm1Nbm	either: (involves: 129S/SvEv * C57BL/6) or (involves: 129S/SvEv * NIH Black Swiss)	MGI:2668816
cx2	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm	either: (involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6) or (involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * NIH Black Swiss) or (involves: 129S/SvEv * 129S6/SvEvTac * NIH Black Swiss)	MGI:3040919
cx3	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm Tg(INPP5B)CNbm/0	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N	MGI:5430751
cx4	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Y Tg(INPP5B)CNbm/0	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N	MGI:5430752
cx5	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm Tg(INPP5B)CNbm/Tg(INPP5B)CNbm	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N	MGI:5430753
cx6	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Y Tg(INPP5B)CNbm/Tg(INPP5B)CNbm	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N	MGI:5430754

Allelic Composition	Ocrl^tm1Nbm/Ocrl^tm1Nbm
Genetic Background	either: (involves: 129S/SvEv * C57BL/6) or (involves: 129S/SvEv * NIH Black Swiss)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ocrl^tm1Nbm mutation (1 available); any Ocrl mutation (9 available)

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

normal phenotype

no abnormal phenotype detected ( J:47884 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	oculocerebrorenal syndrome	DOID:1056	OMIM:309000	J:47884

Allelic Composition	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm
Genetic Background	either: (involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6) or (involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * NIH Black Swiss) or (involves: 129S/SvEv * 129S6/SvEvTac * NIH Black Swiss)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Inpp5b^tm1Nbm mutation (0 available); any Inpp5b mutation (57 available)
Ocrl^tm1Nbm mutation (1 available); any Ocrl mutation (9 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:47884 )

• at E9.5 no double homozygous embryos could be found

Allelic Composition	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm Tg(INPP5B)CNbm/0
Genetic Background	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N

Find Mice

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

mortality/aging

premature death ( J:185879 )

• a few mice die by 6 weeks of age

growth/size/body

decreased birth body size ( J:185879 )

• in a few mice

decreased body weight ( J:185879 )

postnatal growth retardation ( J:185879 )

• by 4 weeks

renal/urinary system

aminoaciduria ( J:185879 )

increased urine microglobulin level ( J:185879 )

vision/eye

vision/eye phenotype ( J:185879 )

N	• mice exhibit normal lens development and do not develop cataracts

homeostasis/metabolism

aminoaciduria ( J:185879 )

increased urine microglobulin level ( J:185879 )

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Dent disease	DOID:0050699	OMIM:300009 OMIM:300555	J:185879
oculocerebrorenal syndrome	DOID:1056	OMIM:309000	J:185879

Allelic Composition	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Y Tg(INPP5B)CNbm/0
Genetic Background	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N

Find Mice

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

mortality/aging

premature death ( J:185879 )

• a few mice die by 6 weeks of age

growth/size/body

decreased birth body size ( J:185879 )

• in a few mice

decreased body weight ( J:185879 )

postnatal growth retardation ( J:185879 )

• by 4 weeks

renal/urinary system

aminoaciduria ( J:185879 )

increased urine microglobulin level ( J:185879 )

vision/eye

vision/eye phenotype ( J:185879 )

N	• mice exhibit normal lens development and do not develop cataracts

homeostasis/metabolism

aminoaciduria ( J:185879 )

increased urine microglobulin level ( J:185879 )

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Dent disease	DOID:0050699	OMIM:300009 OMIM:300555	J:185879
oculocerebrorenal syndrome	DOID:1056	OMIM:309000	J:185879

Allelic Composition	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Ocrl^tm1Nbm Tg(INPP5B)CNbm/Tg(INPP5B)CNbm
Genetic Background	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N

Find Mice

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

growth/size/body

decreased body weight ( J:185879 )

postnatal growth retardation ( J:185879 )

• by 4 weeks

renal/urinary system

renal/urinary system phenotype ( J:185879 )

N	• mice do not exhibit low molecular weight proteinuria

Allelic Composition	Inpp5b^tm1Nbm/Inpp5b^tm1Nbm Ocrl^tm1Nbm/Y Tg(INPP5B)CNbm/Tg(INPP5B)CNbm
Genetic Background	involves: 129S/SvEv * 129S6/SvEvTac * FVB/N

Find Mice

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

growth/size/body

decreased body weight ( J:185879 )

postnatal growth retardation ( J:185879 )

• by 4 weeks

renal/urinary system

renal/urinary system phenotype ( J:185879 )

N	• mice do not exhibit low molecular weight proteinuria

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