Fgfr3^tm2Wei
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm2Wei
• Name: fibroblast growth factor receptor 3; targeted mutation 2, Weizmann Institute of Science
• MGI ID: MGI:2135636
• Synonyms: Fgfr3^G374R, FGFR3^G374Rneo-
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm2Wei page

Anatomical defects of the Fgfr3^tm2Wei/Fgfr3⁺ mouse

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54829
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: Introduction of a G to A point mutation in codon 374 (orthologous to human codon 380) that altered the corresponding amino acid from a glycine to an arginine. A loxP flanked neomycin cassette inserted into intron 4 was removed by cre-mediated recombination. Northern blot analysis revealed that a normal molecular weight mRNA was made in homozygous mutants. (J:54829)

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)
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ht1  Disease Model	Fgfr3^tm2Wei/Fgfr3^+	involves: 129S1/Sv * 129X1/SvJ * MF1

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
craniofacial	√
abnormal cranium morphology	√
abnormal foramen magnum morphology	√
short frontal bone	√
abnormal parietal bone morphology	√
long incisors	√
misaligned incisors	√
malocclusion	√
abnormal maxilla morphology	√
short nasal bone	√
round head	√
growth/size/body	√
long incisors	√
misaligned incisors	√
malocclusion	√
short nasal bone	√
round head	√
disproportionate dwarf	√
limbs/digits/tail	√
short tibia	√
respiratory system	√
short nasal bone	√
skeleton	√
abnormal cranium morphology	√
abnormal foramen magnum morphology	√
short frontal bone	√
abnormal parietal bone morphology	√
long incisors	√
misaligned incisors	√
malocclusion	√
abnormal maxilla morphology	√
short nasal bone	√
short tibia	√
abnormal long bone epiphyseal plate proliferative zone	√
decreased width of hypertrophic chondrocyte zone	√
decreased long bone epiphyseal plate size	√
disorganized long bone epiphyseal plate	√
kyphosis	√

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

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	ht1
achondroplasia IDs achondroplasia       DOID:4480 ICD10CM:Q77.4 MESH:D000130 NCI:C34345 OMIM:100800 UMLS_CUI:C0001080 Close	√

Expression

In Structures Affected by this Mutation:

13 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 Fgfr3 Mutation: 54 strains or lines available

References

• Original: J:54829 Wang Y, et al., A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci U S A. 1999 Apr 13;96(8):4455-60
• All: 3 reference(s)