Ror2<tm1Ymi> Targeted Allele Detail MGI Mouse (MGI:2183225)

Ror2^tm1Ymi
Targeted Allele Detail

Summary

Symbol:	Ror2^tm1Ymi
Name:	receptor tyrosine kinase-like orphan receptor 2; targeted mutation 1, Yasuhiro Minami
MGI ID:	MGI:2183225
Synonyms:	mRor2^-, Ror2-
Gene:	Ror2 Location: Chr13:53263353-53440160 bp, - strand Genetic Position: Chr13, 27.68 cM, cytoband B3
Alliance:	Ror2^tm1Ymi page

Ror2^Y324C/Ror2^Y324C and Ror2^tm1Ymi/Ror2^tm1Ymi mice exhibit short tails at E10.75

Show the 2 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:60125
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: The gene was disrupted by replacement of exons encoding an Ig-like domain with a neomycin resistance gene via homologous recombination. Western blot analysis confirmed the absence of protein expression in neural progenitor cells from homozygous mice. (J:60125, J:182150)

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	Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd
hm2 Disease Model	Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6
cx3	Ror1^tm1Ymi/Ror1^tm1Ymi Ror2^tm1Ymi/Ror2^tm1Ymi	involves: 129P2/OlaHsd * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	cx3
show or hide all annotated terms
cardiovascular system		√	√
transposition of great arteries		√	√
ventricular septal defect			√
perimembraneous ventricular septal defect		√
cellular		√
decreased primordial germ cell number		√
abnormal primordial germ cell migration		√
craniofacial		√
abnormal cranium morphology		√
increased cranium width		√
abnormal jaw morphology		√
abnormal mandible morphology		√
abnormal mandibular angle morphology		√
abnormal mandibular condyloid process morphology		√
short mandible		√
abnormal maxilla morphology		√
abnormal middle ear ossicle morphology		√
abnormal malleus morphology		√
abnormal craniofacial development		√
abnormal Meckel's cartilage morphology		√
short Meckel's cartilage		√
abnormal nasal capsule morphology		√
midface hypoplasia		√
cleft secondary palate		√
failure of palatal shelf elevation		√
digestive/alimentary system		√
cleft secondary palate		√
failure of palatal shelf elevation		√
embryo		√
decreased embryo size		√
abnormal somite development		√
abnormal somite shape		√
abnormal somite size		√
small tail bud		√
growth/size/body		√
abnormal nasal capsule morphology		√
midface hypoplasia		√
cleft secondary palate		√
failure of palatal shelf elevation		√
decreased embryo size		√
hearing/vestibular/ear	√	√
abnormal middle ear ossicle morphology		√
abnormal malleus morphology		√
abnormal organ of Corti morphology	√
abnormal cochlear hair cell morphology	√
abnormal cochlear outer hair cell morphology	√
abnormal tegmen tympani morphology		√
homeostasis/metabolism		√
abnormal blood homeostasis		√
cyanosis		√
limbs/digits/tail	√	√
small tail bud		√
abnormal limb morphology		√
abnormal autopod morphology		√
brachyphalangia	√
brachydactyly		√
polydactyly		√
abnormal forelimb stylopod morphology		√
abnormal forelimb zeugopod morphology		√
short radius		√
short ulna		√
abnormal hindlimb stylopod morphology		√
abnormal hindlimb zeugopod morphology		√
short metacarpal bones		√
short tail		√
mortality/aging		√	√
neonatal lethality, complete penetrance		√
perinatal lethality, incomplete penetrance			√
nervous system	√
abnormal cochlear hair cell morphology	√
abnormal cochlear outer hair cell morphology	√
reproductive system		√
decreased primordial germ cell number		√
abnormal primordial germ cell migration		√
genital tubercle hypoplasia		√
respiratory system		√
abnormal nasal capsule morphology		√
abnormal pulmonary alveolus morphology		√
respiratory distress		√
skeleton	√	√	√
abnormal cranium morphology		√
increased cranium width		√
abnormal jaw morphology		√
abnormal mandible morphology		√
abnormal mandibular angle morphology		√
abnormal mandibular condyloid process morphology		√
short mandible		√
abnormal maxilla morphology		√
abnormal middle ear ossicle morphology		√
abnormal malleus morphology		√
abnormal long bone morphology			√
decreased length of long bones		√
brachyphalangia	√
short radius		√
short ulna		√
short metacarpal bones		√
absent sternum			√
abnormal pubic symphysis morphology			√
abnormal rib morphology		√
rib fusion		√
abnormal vertebrae morphology		√
abnormal sacral vertebrae morphology		√
sacral vertebral fusion		√
small sacral vertebrae		√
abnormal vertebrae development		√
abnormal cartilage morphology		√	√
abnormal Meckel's cartilage morphology		√
short Meckel's cartilage		√
abnormal nasal capsule morphology		√
abnormal cartilage development		√	√
abnormal long bone epiphyseal plate proliferative zone		√
decreased width of hypertrophic chondrocyte zone		√
abnormal chondrocyte morphology			√
delayed chondrocyte differentiation		√
delayed bone ossification		√
vision/eye		√
ocular hypertelorism		√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
autosomal recessive Robinow syndrome IDs autosomal recessive Robinow syndrome DOID:0060764 OMIM:268310 ORDO:1507 Close	√

Expression

In Mice Carrying this Mutation:	76 assay results
In Structures Affected by this Mutation:	35 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 Ror2 Mutation:	126 strains or lines available

References

Original:	J:60125 Takeuchi S, et al., Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation. Genes Cells. 2000 Jan;5(1):71-8
All:	31 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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