Phenotypes associated with this allele

• Allele Symbol: Fgfr2^tm3Dsn
• Allele Name: targeted mutation 3, Clive Dickson
• Allele ID: MGI:2153818
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr2^tm3Dsn/Fgfr2^tm3Dsn	involves: 129P2/OlaHsd * C57BL/6	MGI:2176484

Genotype
MGI:2176484

hm1

• Allelic Composition: Fgfr2^tm3Dsn/Fgfr2^tm3Dsn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:67731 )

• homozygotes are obtained at the expected ratio up to birth, but they cannot survive outside the uterus due to agenesis of the lungs

growth/size/body

absent teeth ( J:67731 )

• show complete agenesis of teeth

cleft palate ( J:67731 )

decreased fetal size ( J:67731 )

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:67731 )

• by E10 to E10.5, the apical ectodermal ridge (AER) is only discernible as a thickening of the ectoderm

• exhibit an increase in apoptosis in the presumptive AER and limb bud mesenchyme by E10.5-E10.5

• exhibit an increase in nonproliferating cells in the limb bud at E10.5 and E11.5

absent limbs ( J:67731 )

• seen at birth

caudal vertebral fusion ( J:67731 )

• fusion of the caudal vertebrae causing the tail to curve dorsally

curly tail ( J:67731 )

• dorsally curved tail at birth

endocrine/exocrine glands

abnormal salivary gland morphology ( J:67731 )

• show dysgenesis of the salivary glands

abnormal adrenal gland development ( J:67731 )

• dysgenesis of the adrenal glands

absent adenohypophysis ( J:67731 )

• show agenesis of the anterior pituitary gland

abnormal thymus development ( J:67731 )

• show dysgenesis of the thymus

absent thyroid gland ( J:67731 )

• show agenesis of the thyroid

abnormal pancreas development ( J:67731 )

• show dysgenesis of the pancreas

hearing/vestibular/ear

abnormal otic vesicle development ( J:67731 )

• show dysgenesis of the otic vesicle

small otic capsule ( J:67731 )

• smaller otic capsules

immune system

abnormal thymus development ( J:67731 )

• show dysgenesis of the thymus

craniofacial

absent teeth ( J:67731 )

• show complete agenesis of teeth

cleft palate ( J:67731 )

renal/urinary system

abnormal kidney development ( J:67731 )

• show dysgenesis of the kidneys

small kidney ( J:67731 )

decreased nephron number ( J:67731 )

• reduction in the number of presumptive nephrons

abnormal urethra morphology ( J:98380 )

• proliferation of urethral epithelial progenitors arrests between E13.5 and E15.5, resulting in failure of urethral maturation and tubulogenesis

• males lack a tubular urethra and ventral prepuce

hypospadia ( J:98380 )

• both male and female external genitalia shows hypospadias, in which the bilaminar urethral plate delaminates along the ventral midline, and the prepuce fails to develop ventrally

• early stages of tubercle outgrowth are normal, however by E13.5, the ventral side of the urethral plate develops a precocious proximal opening and a furrow appears along the urethral seam

respiratory system

abnormal pulmonary circulation ( J:111148 )

• exhibit no evidence for the development of pulmonary circulation

absent lungs ( J:67731 )

• show agenesis of the lungs

skeleton

absent teeth ( J:67731 )

• show complete agenesis of teeth

caudal vertebral fusion ( J:67731 )

• fusion of the caudal vertebrae causing the tail to curve dorsally

abnormal scapula morphology ( J:67731 )

• deformed scapula

abnormal pelvic girdle bone morphology ( J:67731 )

• exhibit a rudimentary pelvic girdle

delayed intramembranous bone ossification ( J:67731 )

vision/eye

absent eyelids ( J:67731 )

• seen at birth

hematopoietic system

abnormal thymus development ( J:67731 )

• show dysgenesis of the thymus

nervous system

absent adenohypophysis ( J:67731 )

• show agenesis of the anterior pituitary gland

digestive/alimentary system

cleft palate ( J:67731 )

abnormal salivary gland morphology ( J:67731 )

• show dysgenesis of the salivary glands

abnormal stomach glandular region morphology ( J:67731 )

• show dysgenesis of the glandular stomach

cardiovascular system

absent pulmonary artery ( J:111148 )

• no pulmonary arteries are seen in E17.5 embryos

absent pulmonary vein ( J:111148 )

• no pulmonary veins are seen in E17.5 hearts

abnormal truncus arteriosus septation ( J:111148 )

• exhibit a delay in outflow tract septation; the outflow tract cushions only initiate fusion and show reduced spiraling at E12.5

abnormal heart development ( J:111148 )

abnormal conotruncal ridge morphology ( J:111148 )

• endocardial cushions in the distal outflow tract are not fused at E11.5

conotruncal ridge hypoplasia ( J:111148 )

• both sinistroventral and dextrodorsal outflow tract cushions are hypoplastic

• exhibit a delay in outflow tract septation; the outflow tract cushions only initiate fusion and show reduced spiraling at E12.5

double outlet right ventricle ( J:111148 )

• other mutants display a ventricular septal defect with double outlet right ventricle rather than overriding aorta

overriding aortic valve ( J:111148 )

• the perimembranous ventricular septal defect is associated with an overriding aorta in 70% of mutants

heart left atrium hypoplasia ( J:111148 )

• left atrial hypoplasia at E10.5

abnormal heart ventricle morphology ( J:111148 )

abnormal trabecula carnea morphology ( J:111148 )

• defective trabeculation

thin left ventricle myocardium compact layer ( J:111148 )

• significant reduction in the thickness of the left ventricular compact myocardial layer at E17.5

perimembraneous ventricular septal defect ( J:111148 )

• more than 90% of E14.5 and E18.5 embryos display a perimembranous ventricular septal defect

muscular ventricular septal defect ( J:111148 )

• 40% show a defect in the muscular component of the septum

heart right ventricle hypoplasia ( J:111148 )

• 4 of 14 show right ventricle hypoplasia

thin ventricular wall ( J:111148 )

• seen in 5 of 14 mutants

abnormal interventricular groove morphology ( J:111148 )

• SEM shows absence of pronounced interventricular groove

abnormal pulmonary circulation ( J:111148 )

• exhibit no evidence for the development of pulmonary circulation

muscle

abnormal trabecula carnea morphology ( J:111148 )

• defective trabeculation

thin left ventricle myocardium compact layer ( J:111148 )

• significant reduction in the thickness of the left ventricular compact myocardial layer at E17.5

embryo

abnormal apical ectodermal ridge morphology ( J:67731 )

• by E10 to E10.5, the apical ectodermal ridge (AER) is only discernible as a thickening of the ectoderm

• exhibit an increase in apoptosis in the presumptive AER and limb bud mesenchyme by E10.5-E10.5

• exhibit an increase in nonproliferating cells in the limb bud at E10.5 and E11.5

integument

abnormal hair follicle morphology ( J:67731 , J:85732 )

• show dysgenesis of the hair follicles (J:67731)

• some hair follicles show an abnormal appearance (J:85732)

• skin grafts from E18.5 homozygotes transplanted onto nude mice display a reduced number of hair follicles, a loss of the regular pattern of alignment, failure of hair follicles to penetrate the subcutis, thinner hair shafts, absence of guard, auchene, zig-zag and awl hairs, and lack of the regular arrangement of air cells (J:85732)

abnormal hair follicle development ( J:85732 )

• hair follicles are developmentally retarded; majority of follicles are at stages 1 or 2 of morphogenesis and none are at stage 4 pelage hair follicles show delayed induction and are reduced in number, but morphogenesis appears relatively normal at early stages

decreased hair follicle number ( J:85732 )

• no pelage hair follicles are seen at E13.5 and E14.5, although vibrissal follicles are present

• exhibit a decrease in the density of hair follicles at E17.5

abnormal vibrissa number ( J:85732 )

• pattern of vibrissae on the muzzle is altered, with only 3 rows of vibrissae per row and fewer vibrissae per row the vibrissae located above the eye and on the cheek are present, however the follicle normally located just below the eye is not and an ectopic vibrissa on the side of the eye is seen

abnormal skin morphology ( J:67731 )

• show dysgenesis of the skin

abnormal epidermal layer morphology ( J:85732 )

• exhibit severe epidermal hypoplasia, however exhibit no defect in epidermal differentiation, or in barrier function

abnormal epidermis stratum basale morphology ( J:85732 )

• exhibit a significant reduction in the number of proliferating cells in the basal layer of the interfollicular epidermis from E14.5-E16.5

• basal cells are flatter and less densely packed

abnormal keratinocyte morphology ( J:85732 )

• exhibit a decrease in the number of proliferating keratinocytes from E14.5-E16.5, however by E18.5, differences are no longer seen

thin epidermis ( J:85732 )

• from E13.5 onwards, show an absence of proper epidermal stratification and produce an epidermis of only 1-3 cells in depth

• epidermis of E14.5 to E18.5 mutants is consistently 2.5 to 3.5 times thinner

thin skin ( J:67731 , J:85732 )

• seen at birth (J:67731)