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Phenotypes Associated with This Genotype
Genotype
MGI:2173367
Allelic
Composition
Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2tm1.1Dsn mutation (0 available); any Fgfr2 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Submandibular gland abnormalities in Fgf10tm1Ska/Fgf10tm1Ska and Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn mice at E12.5

mortality/aging
• die at birth due to failure of lung formation

growth/size/body
• teeth do not develop normally and fail to progress beyond the bud stage

respiratory system
• defective lung development is apparent at E10.5
• E12.5 embryos show a finger of mesenchyme surrounded by a single layer of epithelium which exhibits extensive apoptosis by E14.5
• at E10.5, primary bronchi are absent due to failure of tracheal bifurcation
• mice fail to form lungs (J:59285)
• no lungs present at E18.5 (J:59285)

limbs/digits/tail
• E10.5 embryos show the beginning of limb bud initiation but no thickening of the epithelium characteristic of an apical endodermal ridge
• exhibit extensive apoptosis in the presumptive limb bud mesoderm and some in the overlying epithelium
• tail at E16.5 shows malformed and fused caudal vertebrae

craniofacial
• teeth do not develop normally and fail to progress beyond the bud stage

endocrine/exocrine glands
• deficiency in salivary gland formation
• the submandibular salivary gland is entirely absent at E13.5
• the submandibular salivary gland is severely hypoplastic at E12.5, showing an extremely small initial bud
• the anterior pituitary is absent, however the infundibular recess and its derivative, the pars nervosa, are present and appear normal
• at E10.5, Rathke's pouch epithelium exhibits numerous apoptotc cells as shown by TUNEL analysis
• at E10.5, Rathke's pouch is poorly formed with fewer cell layers forming the walls of the diverticulum and shows widespread apoptosis
• Rathke's pouch is absent at E14.5
• embryos transiently develop only mammary bud 4 at E11.5; however, the epithelium of mammary bud 4 undergoes extensive apoptosis at E12.5, and by E13 and E14.5, bud 4 is absent
• at E16.5, no mammary bud development is detected in mutant skin, while five pairs are clearly seen in wild-type controls
• all placodes (1, 2, 3, 5) except 4 are absent along the mammary line
• when flanks from Fgf10-deficient mice are cultured with FGF10 beads, placode formation is rescued
• a mammary bud arising from placode 4 forms transiently at E11.5 and is then lost within a day through apoptosis; the other 4 mammary placodes (1, 2, 3, and 5) are absent

hearing/vestibular/ear
• otic vesicles at E10 and E11 are smaller than controls
• do not observe fusion of the canal plates at E13-14
• the cochlea is disrupted
• exhibit rudimentary sensory epithelia
• semicircular canal formation is abnormal (J:59285)
• at E13 and E14, do not observe elongation of the semicircular ducts (J:72516)
• at E18, the cochleovestibular membraneous labyrinth is severely disrupted and is replaced by cystic cavities or chambers that are lined by simple epithelium
• some mutants show failure of endolymphatic duct formation at E10.5 (J:59285)
• about 50% of otocyts between E11 and E14 do not show any signs of initiation of endolymphatic duct formation (J:72516)
• at E13 and E14, do not observe elongation of the endolymphatic ducts (J:72516)
• otic capsules are greatly reduced in size
• the whole inner ear is generally cystic in appearance

vision/eye
• eyes are open due to an apparent absence of eyelids

digestive/alimentary system
• development of the cecum is altered, such that a cecal bud forms but is much smaller at E12.5 and the epithelial layer does not invade the mesenchymal layer
• at E13.5, ceca show mesenchymal buds that fail to continue development and show no progressive elongation of the structure
• 100% show cecal atresia with absence of epithelial and smooth muscular layers
• anorectal malformation characterized by an absence of rectum in the pelvis, anorectal discontinuity, shortened perineal body and perineal hypospodias
• absence of rectum in the pelvis
• shortened perineal body and perineal hypospodias
• deficiency in salivary gland formation
• the submandibular salivary gland is entirely absent at E13.5
• the submandibular salivary gland is severely hypoplastic at E12.5, showing an extremely small initial bud
• stomach exhibits some differences in tissue architecture compared to controls

nervous system
• the anterior pituitary is absent, however the infundibular recess and its derivative, the pars nervosa, are present and appear normal
• at E10.5, Rathke's pouch epithelium exhibits numerous apoptotc cells as shown by TUNEL analysis
• at E10.5, Rathke's pouch is poorly formed with fewer cell layers forming the walls of the diverticulum and shows widespread apoptosis
• Rathke's pouch is absent at E14.5
• although initial delamination and migration of neuronal precursors is seen at E10, this process and the formation of the cochleovestibular ganglion is severely retarded at E11
• large number of cochleovestibular neurons are undergoing apoptosis at E13
• neurons of the rudimentary cochleovestibular ganglion eminate fibers toward the periphery but the neurites do not penetrate the otic epithelium

skeleton
• teeth do not develop normally and fail to progress beyond the bud stage
• tail at E16.5 shows malformed and fused caudal vertebrae
• the clavicle is fused to the coracoid process
• the scapula, particularly the blade and coracoid process, is greatly reduced in size and the acromion fails to form
• the pelvic girdle is severely malformed
• exhibit only a rudimentary ileum
• exhibit only a rudimentary ischium and absent ischial rami
• absent pubis
• premature suture between the parietal and squamous temporal bones

pigmentation
• skin is lighter in color

reproductive system
• shortened perineal body and perineal hypospodias

renal/urinary system
• perineal hypospadias

integument
• embryos transiently develop only mammary bud 4 at E11.5; however, the epithelium of mammary bud 4 undergoes extensive apoptosis at E12.5, and by E13 and E14.5, bud 4 is absent
• at E16.5, no mammary bud development is detected in mutant skin, while five pairs are clearly seen in wild-type controls
• all placodes (1, 2, 3, 5) except 4 are absent along the mammary line
• when flanks from Fgf10-deficient mice are cultured with FGF10 beads, placode formation is rescued
• a mammary bud arising from placode 4 forms transiently at E11.5 and is then lost within a day through apoptosis; the other 4 mammary placodes (1, 2, 3, and 5) are absent
• show no discernible panniculus carnosus muscle layer that normally lies beneath the dermis
• the different stratified layers of the dermis are thinner and appear less well organized
• the basal keratinocyte layer between the hair follicles is particularly thin (J:59285)
• exhibit a decrease in the number of cycling cells in the basal layer, however the outer hair follicle sheath appears normal (J:59285)
• in E11.5-11.75 embryos, cells of the stratum germinativum are cuboidal rather than cylindrical and formation of the periderm is impaired (J:109476)
• the different stratified layers of the epidermis are thinner and appear less well organized, however epidermal differentiation appears normal
• skin is lighter in color

muscle
• show no discernible panniculus carnosus muscle layer that normally lies beneath the dermis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
intestinal atresia DOID:10486 J:92361


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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory