Phenotypes associated with this allele

• Allele Symbol: Fgfr3^tm4Cxd
• Allele Name: targeted mutation 4, Chu-Xia Deng
• Allele ID: MGI:2135675
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fgfr3^tm4Cxd/Fgfr3^+ Kras^tm4Tyj/Kras^+ Tg(Upk2-cre)6Xrw/0	involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N	MGI:5141739
cn2	Ctnnb1^tm1Mmt/Ctnnb1^+ Fgfr3^tm4Cxd/Fgfr3^+ Tg(Upk2-cre)6Xrw/0	involves: 129S6/SvEvTac * 129X1/SvJ * FVB/N	MGI:5141741
cn3	Fgfr3^tm4Cxd/Fgfr3^+ Tg(Col2a1-cre)1Bhr/0	involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss * SJL	MGI:3640323
cn4	Fgfr3^tm4Cxd/Fgfr3^+ Tg(Upk2-cre)6Xrw/0	involves: 129S6/SvEvTac * FVB/N	MGI:5141738

Genotype
MGI:5141739

cn1

• Allelic Composition: Fgfr3^tm4Cxd/Fgfr3⁺; Kras^tm4Tyj/Kras⁺; Tg(Upk2-cre)6Xrw/0
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

integument

increased skin papilloma incidence ( J:174242 )

• by 1 year of age, 44% of mutants develop skin papilloma, with tumors reaching 1 cm in diameter by a median of 220 days

mortality/aging

premature death ( J:174242 )

• shorter survival due to skin papillomas, with a survival time between 100-400 days

neoplasm

neoplasm ( J:174242 )

N • mice aged to 12 month do not develop urothelial hyperplasia or urothelial carcinoma or lung tumors

increased skin papilloma incidence ( J:174242 )

• by 1 year of age, 44% of mutants develop skin papilloma, with tumors reaching 1 cm in diameter by a median of 220 days

Genotype
MGI:5141741

cn2

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Fgfr3^tm4Cxd/Fgfr3⁺; Tg(Upk2-cre)6Xrw/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * FVB/N

mortality/aging

premature death ( J:174242 )

• shorter survival due to lung cancer, with a survival time between 200-400 days

renal/urinary system

abnormal urinary bladder urothelium morphology ( J:174242 )

• 100% of mutants exhibit areas of hyperproliferation in the bladder urothelium from about 3 months of age, however these lesions do not progress further when examined at 12 months of age

neoplasm

neoplasm ( J:174242 )

N • despite hyperproliferation in the bladder, mutants do not develop urothelial carcinoma by 12 months of age

N • mutants do not develop skin papillomas

increased lung tumor incidence ( J:174242 )

• 36% of mutants develop lung tumors by 1 year of age

• lung tumors resemble solitary fibrous tumors of the lugs (hemangiopericytomas)

respiratory system

increased lung tumor incidence ( J:174242 )

• 36% of mutants develop lung tumors by 1 year of age

• lung tumors resemble solitary fibrous tumors of the lugs (hemangiopericytomas)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lung cancer		DOID:1324	OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210	J:174242

Genotype
MGI:3640323

cn3

• Allelic Composition: Fgfr3^tm4Cxd/Fgfr3⁺; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss * SJL

mortality/aging

neonatal lethality, incomplete penetrance ( J:63198 )

• majority die on the first day after birth

skeleton

abnormal skeleton morphology ( J:63198 )

• exhibit skeletal phenotypes similar to heterozygous Fgfr3^tm4.1Cxd mice

respiratory system

impaired lung alveolus development ( J:63198 )

• P1 lungs show reduced alveoli formation similar to that seen in heterozygous Fgfr3^tm4.1Cxd mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thanatophoric dysplasia		DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:63198

Genotype
MGI:5141738

cn4

• Allelic Composition: Fgfr3^tm4Cxd/Fgfr3⁺; Tg(Upk2-cre)6Xrw/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

neoplasm

neoplasm ( J:174242 )

N • mutants do not develop skin or lung tumors, or urothelial hyperplasia, dysplasia or carcinoma