Phenotypes associated with this allele

• Allele Symbol: Nf2^tm1Tyj
• Allele Name: targeted mutation 1, Tyler Jacks
• Allele ID: MGI:1857941
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nf2^tm1Tyj/Nf2^tm1Tyj	involves: 129S2/SvPas * C57BL/6J	MGI:2447457
ht2	Nf2^tm1Tyj/Nf2^+	either: (involves: 129S2/SvPas * 129S4/SvJae * C57BL/6) or (involves: 129S2/SvPas * C57BL/6J)	MGI:2447459

Genotype
MGI:2447457

hm1

• Allelic Composition: Nf2^tm1Tyj/Nf2^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

mortality/aging

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:40596 )

• most die between E7.5 and E8.5; underdeveloped structures observed at E6.5

embryo

abnormal developmental patterning ( J:40596 )

abnormal dorsal-ventral axis patterning ( J:40596 )

• abnormal morphology of the visceral endoderm is suggestive of a defect in the establishment of the primary dorsal-ventral axis

failure to gastrulate ( J:40596 )

• gastrulation is not initiated

abnormal embryonic tissue morphology ( J:40596 )

absent mesoderm ( J:40596 )

• mesoderm does not form due to failure of gastrulation

abnormal extraembryonic tissue morphology ( J:40596 )

absent extraembryonic ectoderm ( J:40596 )

abnormal placenta morphology ( J:40596 )

small ectoplacental cone ( J:40596 )

disorganized extraembryonic tissue ( J:40596 )

abnormal visceral endoderm morphology ( J:40596 )

• abnormal visceral endoderm; more than one region of squamous morphology is often seen suggesting a defect in the establishment of the primary embryonic axis

Genotype
MGI:2447459

ht2

• Allelic Composition: Nf2^tm1Tyj/Nf2⁺
• Genetic Background: either: (involves: 129S2/SvPas * 129S4/SvJae * C57BL/6) or (involves: 129S2/SvPas * C57BL/6J)

neoplasm

neoplasm ( J:47282 )

N • schwannomas, meningiomas, or ependymomas were not detected

increased lymphoma incidence ( J:47282 )

increased malignant tumor incidence ( J:47282 )

• increased incidence of highly metastatic tumors, including osteosarcoma, lymphoma, lung adenocarcinomas, hepatocellular carcinoma and fibrosarcoma

• osteosarcoma frequency was higher in females and the frequency of fibrosarcomas was higher in males

increased carcinoma incidence ( J:47282 )

increased lung adenocarcinoma incidence ( J:47282 )

increased sarcoma incidence ( J:47282 )

increased fibrosarcoma incidence ( J:47282 )

increased osteosarcoma incidence ( J:47282 )

respiratory system

increased lung adenocarcinoma incidence ( J:47282 )

skeleton

increased osteosarcoma incidence ( J:47282 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	familial meningioma	DOID:4586		J:47282