All Phenotypes Nbn<tm1Jpt> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nbn^tm1Jpt
targeted mutation 1, John H J Petrini
MGI:2183796

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nbn^tm1Jpt/Nbn^tm1Jpt	involves: 129S7/SvEvBrd	MGI:3615834
cn2	Lig4^tm1Pmc/Lig4^tm1Pmc Nbn^tm1Jpt/Nbn^tm1Jpt Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3831185
cx3	Lig4^tm1Icrf/Lig4^tm1Icrf Nbn^tm1Jpt/Nbn^tm1Jpt	involves: 129 * 129S7/SvEvBrd	MGI:3831184
cx4	Nbn^tm1Jpt/Nbn^tm1Jpt Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3615887
cx5	Atm^tm1Awb/Atm^tm1Awb Nbn^tm1Jpt/Nbn^tm1Jpt	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3615888
cx6	Nbn^tm1Jpt/Nbn^tm1Jpt Rad50^tm2Jpt/Rad50^tm2Jpt	involves: 129S7/SvEvBrd * C57BL/6	MGI:3615681
cx7	Nbn^tm1Jpt/Nbn⁺ Rad50^tm2Jpt/Rad50^tm2Jpt	involves: 129S7/SvEvBrd * C57BL/6	MGI:3615682

Allelic Composition	Nbn^tm1Jpt/Nbn^tm1Jpt
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)

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

cellular

cellular phenotype ( J:144172 )

N	• mice exhibit normal ionizing radiation-induced apoptosis in the developing nervous system and cultured thymocytes

abnormal cell cycle checkpoint function ( J:75956 )

• MEFs exhibit defective intra S phase and G2/M checkpoints after ionizing radiation treatment

increased cellular sensitivity to gamma-irradiation ( J:75956 )

• MEFs exhibit pronounced sensitivity to ionizing radiation

chromosome breakage ( J:75956 )

• significantly higher levels of chromosomal aberrations following ionizing radiation treatment than wild-type, exhibiting increases in both deletion and exchange type aberrations

immune system

immune system phenotype ( J:75956 )

N	• immunoglobulin isotype profiles are indistinguishable from controls and splenic B and thymic T cell propulations vary by less than 25% from wild-type

reproductive system

reproductive system phenotype ( J:75956 )

N	• male and females are fertile and exhibit no abnormalities in ovaries or testes

neoplasm

neoplasm ( J:75956 )

N	• homozygotes are not markedly prone to malignancy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Nijmegen breakage syndrome		DOID:7400	OMIM:251260	J:75956

Allelic Composition	Lig4^tm1Pmc/Lig4^tm1Pmc Nbn^tm1Jpt/Nbn^tm1Jpt Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4^tm1Pmc mutation (0 available); any Lig4 mutation (46 available)
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

nervous system

abnormal brain development ( J:144172 )

• at E13.5 and E15.5, neural tissue apoptosis is increased compared to in wild-type mice

decreased brain weight ( J:144172 )

growth/size/body

microcephaly ( J:144172 )

Allelic Composition	Lig4^tm1Icrf/Lig4^tm1Icrf Nbn^tm1Jpt/Nbn^tm1Jpt
Genetic Background	involves: 129 * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4^tm1Icrf mutation (0 available); any Lig4 mutation (46 available)
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:144172 )

• mice die at around mid-gestation

cellular

cellular phenotype ( J:144172 )

N	• mice exhibit normal ionizing radiation-induced apoptosis in the developing nervous system

Allelic Composition	Nbn^tm1Jpt/Nbn^tm1Jpt Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S2/SvPas * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (240 available)

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

mortality/aging

premature death ( J:75956 )

• die by 4 months of age

neoplasm

increased lymphoma incidence ( J:75956 )

increased teratoma incidence ( J:75956 )

decreased tumor latency ( J:75956 )

• tumors arise significantly earlier than in single homozygous Trp53 mice, although tumor spectrum is no different than that of homozygous Trp53 mice

Allelic Composition	Atm^tm1Awb/Atm^tm1Awb Nbn^tm1Jpt/Nbn^tm1Jpt
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atm^tm1Awb mutation (7 available); any Atm mutation (170 available)
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:75956 )

• no embryos detected at E10, stage of death not determined

Allelic Composition	Nbn^tm1Jpt/Nbn^tm1Jpt Rad50^tm2Jpt/Rad50^tm2Jpt
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbn^tm1Jpt mutation (1 available); any Nbn mutation (59 available)
Rad50^tm2Jpt mutation (0 available); any Rad50 mutation (53 available)

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

hematopoietic system

hematopoietic system phenotype ( J:103922 )

N	• exhibit hematopoietic rescue of the abnormalities seen in homozygous Rad50^tm2Jpt mice, with numbers of double-negative T cells, pro-B cells, and macrophages within 5-fold levels of wild-type levels

Allelic Composition	Nbn^tm1Jpt/Nbn⁺ Rad50^tm2Jpt/Rad50^tm2Jpt
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

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

hematopoietic system

hematopoietic system phenotype ( J:103922 )

N	• exhibit hematopoietic rescue of the abnormalities seen in homozygous Rad50^tm2Jpt mice, with numbers of double-negative T cells, pro-B cells, and macrophages within 5-fold levels of wild-type levels

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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