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Ptpn11tm1Paw
Targeted Allele Detail
Summary
Symbol: Ptpn11tm1Paw
Name: protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1, Anthony Pawson
MGI ID: MGI:2176524
Synonyms: Shp-2 -, Shp2 -, Shp-2delta46-110
Gene: Ptpn11  Location: Chr5:121268596-121329460 bp, - strand  Genetic Position: Chr5, 61.72 cM, cytoband F
Alliance: Ptpn11tm1Paw page
Defects in the skin, lung and intestine of Egfrwa2/Egfrwa2 Ptpn11tm1Paw/+ mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:43740
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 neomycin resistance cassette replaced a genomic fragment containing exon 3, which contains sequences encoding the SH2-N motif. RT-PCR analysis on total RNA derived from heterozygous mice demonstrated that a transcript was made from this allele that spliced exon 2 to exon 4, resulting in a message that retained the proper reading frame. Western blot analysis on heterozygous specimins confirmed that a mutant protein is expressed from this allele that is consistent with the size expected. (J:43740)
Phenotypes
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)
involves: 129S1/Sv * 129X1/SvJ
 
involves: 129S1/Sv * 129X1/SvJ * CD-1
 
involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn a/A-Egfrwa2 Wnt3avt * C57BL/6
 
Phenotypes:
Affected Systems
show or hide all annotated terms
     
adipose tissue
decreased subcutaneous adipose tissue amount
cardiovascular system
abnormal heart development
cellular
polyploidy
abnormal cell death
decreased cell proliferation
digestive/alimentary system
abnormal intestine morphology
intestinal hypoperistalsis
embryo
abnormal gastrulation
failure of initiation of embryo turning
abnormal rostral-caudal axis patterning
caudal body truncation
embryonic growth arrest
embryonic growth retardation
abnormal axial mesoderm morphology
abnormal neural tube morphology
abnormal embryonic neuroepithelium morphology
open neural tube
kinked neural tube
abnormal notochord morphology
incomplete somite formation
abnormal allantois morphology
abnormal visceral yolk sac morphology
abnormal vitelline vascular remodeling
growth/size/body
embryonic growth retardation
cachexia
postnatal growth retardation
integument
decreased subcutaneous adipose tissue amount
abnormal hair growth
waved hair
abnormal hair follicle morphology
abnormal hair follicle development
abnormal hair follicle orientation
decreased hair follicle number
epidermal atrophy
thin epidermis
dry skin
flaky skin
abnormal skin condition
thin skin
mortality/aging
postnatal lethality, incomplete penetrance
embryonic lethality during organogenesis, complete penetrance
muscle
intestinal hypoperistalsis
abnormal muscle morphology
nervous system
abnormal neural tube morphology
abnormal embryonic neuroepithelium morphology
open neural tube
kinked neural tube
respiratory system
abnormal lung development
atelectasis
thick pulmonary interalveolar septum
abnormal breathing pattern
vision/eye
eyelids open at birth
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm2
IDs
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
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 Ptpn11 Mutation:  46 strains or lines available
References
Original:  J:43740 Saxton TM, et al., Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J. 1997 May 1;16(9):2352-64
All:  14 reference(s)

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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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory