Phenotypes associated with this allele

• Allele Symbol: Ocrl^tm1Nbm
• Allele Name: targeted mutation 1, Robert L Nussbaum
• Allele ID: 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

Genotype
MGI:2668816

hm1

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

• ♀: 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

Genotype
MGI:3040919

cx2

• 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)

mortality/aging

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

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

Genotype
MGI:5430751

cx3

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

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

Genotype
MGI:5430752

cx4

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

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

Genotype
MGI:5430753

cx5

• 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

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

Genotype
MGI:5430754

cx6

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

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