Ptpn11<tm1Paw> Targeted Allele Detail MGI Mouse (MGI:2176524)

Ptpn11^tm1Paw
Targeted Allele Detail

Summary

Symbol:	Ptpn11^tm1Paw
Name:	protein tyrosine phosphatase, non-receptor type 11; targeted mutation 1, Anthony Pawson
MGI ID:	MGI:2176524
Synonyms:	Shp-2 -, Shp2 -, Shp-2^delta46-110
Gene:	Ptpn11 Location: Chr5:121268596-121329460 bp, - strand Genetic Position: Chr5, 61.72 cM, cytoband F
Alliance:	Ptpn11^tm1Paw page

Defects in the skin, lung and intestine of Egfr^wa2/Egfr^wa2 Ptpn11^tm1Paw/⁺ 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 details: A 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
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hm1	Ptpn11^tm1Paw/Ptpn11^tm1Paw	involves: 129S1/Sv * 129X1/SvJ
hm2	Ptpn11^tm1Paw/Ptpn11^tm1Paw	involves: 129S1/Sv * 129X1/SvJ * CD-1
cx3	Egfr^wa2/Egfr^wa2 Ptpn11^tm1Paw/Ptpn11⁺	involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn a/A-Egfr^wa2 Wnt3a^vt * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	cx3
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
Noonan syndrome 1 IDs Noonan syndrome 1 DOID:0060578 ICD10CM:Q87.1 OMIM:163950 Close

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)

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