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H19tm1Masu
Targeted Allele Detail
Nomenclature
Symbol: H19tm1Masu
Name: H19, imprinted maternally expressed transcript; targeted mutation 1, M Azim Surani
MGI ID: MGI:1860836
Synonyms: H19SilK
Gene: H19  Location: Chr7:142575529-142578143 bp, - strand  Genetic Position: Chr7, 87.97 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:63213
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA loxP-flanked neomycin resistance cassette replaced 1.2kb region of the promoter, corresponding to a cis-acting silencer element. This cassette was then excised in ES cells by cre-mediated recombination, resulting in the deletion of the silencer element. (J:63213)
Inheritance:    Dominant
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 25 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any H19 Mutation:  5 strains or lines available
Notes
This mutation results in a loss of silencing of the paternal allele in many endodermal and other tissues.
References
Original:  J:63213 Drewell RA, et al., Deletion of a silencer element disrupts H19 imprinting independently of a DNA methylation epigenetic switch. Development. 2000 Aug;127(16):3419-28
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory