Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol:	Nf2tm1Gth
Name:	neurofibromin 2; targeted mutation 1, Gilles Thomas
MGI ID:	MGI:1888776
Synonyms:	Nf2KO3
Gene:	Nf2  Location: Chr11:4715845-4799536 bp, - strand  Genetic Position: Chr11, 3.0 cM
Alliance:	Nf2tm1Gth page

Germline Transmission:	Earliest citation of germline transmission: J:63264
Parent Cell Line:	IB10/E14IB10 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout, Reporter) Mutation:    Insertion     A IRES-lacZ-PGK-hygromycin resistance cassette was inserted into exon 3 of the gene. (J:63264)

Key:	hm homozygous ht heterozygous tg involves transgenes √ phenotype observed cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/ Background:	Allelic Composition Genetic Background Cell Line(s) Allelic Composition Genetic Background Cell Line(s) Loading... hm1 Nf2tm1Gth/Nf2tm1Gth involves: 129P2/OlaHsd * FVB/N   ht2 Nf2tm1Gth/Nf2+ involves: 129P2/OlaHsd * FVB/N   cn3 Nf2tm1Gth/Nf2tm2Gth Tg(Mpz-cre)3Brn/0 involves: 129P2/OlaHsd * FVB/N   cn4 Nf2tm1Gth/Nf2tm2Gth Tg(Mpz-cre)4Brn/0 involves: 129P2/OlaHsd * FVB/N   cn5 Nf2tm1Gth/Nf2tm2Gth Tg(Mpz-cre)#Brn/0 involves: 129P2/OlaHsd * FVB/N   cn6  Disease Model Nf2tm1Gth/Nf2tm2Gth Tg(Mpz-cre)2Brn/0 involves: 129P2/OlaHsd * FVB/N   cn7 Nf2tm1Gth/Nf2tm2Gth Tg(Mpz-cre)1Brn/0 involves: 129P2/OlaHsd * FVB/N
Phenotypes:	Affected Systems hm1 ht2 cn3 cn4 cn5 cn6 cn7 show or hide all annotated terms               craniofacial √ √ √ abnormal tooth development √ √ delayed tooth eruption √ failure of tooth eruption √ endocrine/exocrine glands √ increased fibroadenoma incidence √ growth/size/body √ √ √ abnormal tooth development √ √ delayed tooth eruption √ failure of tooth eruption √ decreased body size √ decreased body weight √ hearing/vestibular/ear √ increased susceptibility to otitis media √ immune system √ increased susceptibility to otitis media √ integument √ increased fibroadenoma incidence √ mortality/aging √ √ √ √ √ √ decreased survivor rate √ √ √ √ premature death √ postnatal lethality, complete penetrance √ embryonic lethality, complete penetrance √ neoplasm √ √ √ neoplasm N increased fibroadenoma incidence √ osseous metaplasia √ √ increased neurofibroma incidence √ increased hamartoma incidence √ increased lung adenocarcinoma incidence √ increased renal carcinoma incidence √ increased sarcoma incidence √ increased neurofibrosarcoma incidence √ √ increased osteosarcoma incidence √ increased mesothelioma incidence √ √ increased odontoma incidence √ increased odontosarcoma incidence √ increased Schwannoma incidence √ increased osteoma incidence √ nervous system √ √ √ nervous system phenotype N increased neurofibroma incidence √ increased neurofibrosarcoma incidence √ √ increased Schwannoma incidence √ abnormal Schwann cell morphology √ √ renal/urinary system √ √ increased renal carcinoma incidence √ abnormal renal tubule morphology √ √ respiratory system √ increased lung adenocarcinoma incidence √ skeleton √ √ √ abnormal tooth development √ √ delayed tooth eruption √ failure of tooth eruption √ increased osteosarcoma incidence √ increased osteoma incidence √ abnormal osteoblast morphology √ √

View phenotypes and curated references for all genotypes (concatenated display).

Key:	√ disease model   expected model not found
Models:	Human Diseases cn6 otitis media IDs otitis media       DOID:10754 ICD10CM:H66.9 ICD9CM:382.9 MESH:D010033 NCI:C34885 UMLS_CUI:C0029882 Close √

In Structures Affected by this Mutation:

6 anatomical structure(s)

List all tumor models in MMHCdb carrying Nf2tm1Gth

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nf2 Mutation:	65 strains or lines available

Original:	J:63264 Giovannini M, et al., Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev. 2000 Jul 1;14(13):1617-30
All:	9 reference(s)