Phenotypes associated with this allele

• Allele Symbol: Fgfr2^em1Xijin
• Allele Name: endonuclease-mediated mutation 1, Xiaolei Jin
• Allele ID: MGI:8288862
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Fgfr2^em1Xijin/Fgfr2^+	involves: C57BL/6J	MGI:8288884

Genotype
MGI:8288884

ht1

• Allelic Composition: Fgfr2^em1Xijin/Fgfr2⁺
• Genetic Background: involves: C57BL/6J

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

craniofacial

abnormal cranium morphology ( J:379813 )

• round and short skull deformity

• smaller intracranial volume

abnormal coronal suture morphology ( J:378157 )

• early senescence of suture progenitor cells (SPCs)

• enhanced osteogenic differentiation of suture progenitor cells (SPCs)

abnormal basisphenoid bone morphology ( J:379813 )

• length of basisphenoid in the anterior cranial base is shorter

• however, no significant difference in the basioccipital length in the posterior cranial base

short basicranium ( J:379813 )

• anterior skull base shortening

premature presphenoid synchondrosis closure ( J:379813 )

decreased cranium length ( J:379813 )

increased cranium height ( J:379813 )

short frontal bone ( J:379813 )

short presphenoid bone ( J:379813 )

• length of presphenoid bone in the anterior cranial base are shorter

shallow orbits ( J:379813 )

abnormal jaw morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• upper and lower jaw length is decreased

malocclusion ( J:379813 )

short mandible ( J:379813 )

maxillary retrognathia ( J:379813 )

• maxillary retrusion

short maxilla ( J:379813 )

midface hypoplasia ( J:379813 )

short face ( J:379813 , J:378157 )

abnormal nose morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• nasal length is decreased

shortened head ( J:378157 )

behavior/neurological

decreased food intake ( J:379813 )

• feeding difficulties from malocclusion

abnormal response to novel object ( J:379813 )

• in the novel object test, mice interact for long duration with old objects and the preference index is negative

impaired coordination ( J:379813 )

• mice are unable to stay on the rotarod for the entire testing period

hypoactivity ( J:379813 )

• mice show less total movement distance in the open field

• however, no differences are seen in the elevated plus maze or in anxiety

decreased social investigation ( J:379813 )

• in the three-chamber social interaction test, mice exhibit a negative preference index

growth/size/body

short frontal bone ( J:379813 )

short presphenoid bone ( J:379813 )

• length of presphenoid bone in the anterior cranial base are shorter

abnormal jaw morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• upper and lower jaw length is decreased

malocclusion ( J:379813 )

short mandible ( J:379813 )

maxillary retrognathia ( J:379813 )

• maxillary retrusion

short maxilla ( J:379813 )

midface hypoplasia ( J:379813 )

short face ( J:379813 , J:378157 )

abnormal nose morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• nasal length is decreased

shortened head ( J:378157 )

decreased body height ( J:379813 )

• decrease in height starting from P7

postnatal growth retardation ( J:379813 )

• slower growth from P7

slow postnatal weight gain ( J:379813 )

• lower weight starting from P7

cardiovascular system

myocardial fiber disarray ( J:379813 )

• heart shows disorganized myocardial fibers

heart inflammation ( J:379813 )

• heart shows scattered lymphocyte infiltration

hematopoietic system

increased spleen germinal center size ( J:379813 )

• spleen shows extensive expansion of the germinal centers in the splenic nodules with congestion

skeleton

abnormal cranium morphology ( J:379813 )

• round and short skull deformity

• smaller intracranial volume

abnormal coronal suture morphology ( J:378157 )

• early senescence of suture progenitor cells (SPCs)

• enhanced osteogenic differentiation of suture progenitor cells (SPCs)

abnormal basisphenoid bone morphology ( J:379813 )

• length of basisphenoid in the anterior cranial base is shorter

• however, no significant difference in the basioccipital length in the posterior cranial base

short basicranium ( J:379813 )

• anterior skull base shortening

premature presphenoid synchondrosis closure ( J:379813 )

decreased cranium length ( J:379813 )

increased cranium height ( J:379813 )

short frontal bone ( J:379813 )

short presphenoid bone ( J:379813 )

• length of presphenoid bone in the anterior cranial base are shorter

shallow orbits ( J:379813 )

abnormal jaw morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• upper and lower jaw length is decreased

malocclusion ( J:379813 )

short mandible ( J:379813 )

maxillary retrognathia ( J:379813 )

• maxillary retrusion

short maxilla ( J:379813 )

decreased long bone epiphyseal plate size ( J:379813 )

• femoral growth plate region length is shorter

delayed sagittal suture closure ( J:378157 )

premature coronal suture closure ( J:379813 , J:378157 )

• bilateral coronal suture closure (J:379813)

homeostasis/metabolism

cardiac edema ( J:379813 )

• heart shows localized edema

vision/eye

shallow orbits ( J:379813 )

exophthalmos ( J:379813 , J:378157 )

ocular hypertelorism ( J:379813 , J:378157 )

immune system

heart inflammation ( J:379813 )

• heart shows scattered lymphocyte infiltration

increased spleen germinal center size ( J:379813 )

• spleen shows extensive expansion of the germinal centers in the splenic nodules with congestion

mortality/aging

premature death ( J:379813 )

• mice suffer from malnutrition-related death from feeding difficulties due to malocclusion

muscle

myocardial fiber disarray ( J:379813 )

• heart shows disorganized myocardial fibers

nervous system

abnormal hippocampus neuron morphology ( J:379813 )

• brain shows a significant number of shrunken neurons in the CA1, CA4, and dentate gyrus regions of the hippocampus, along with reduced cell layers, disorganized cell arrangement, hyperchromatic nuclei, blurred or absent nucleoli, and indistinct cytoplasmic and nuclear boundaries

• fewer NeuN+ neurons in the hippocampus

reproductive system

reduced female fertility ( J:379813 )

♀ • females are too weak due to malnutrition to conceive or experience miscarriages, resulting in in lower fertility

respiratory system

abnormal nose morphology ( J:379813 )

• 16.7% of mice exhibit nasal and jaw deviations

• nasal length is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Crouzon syndrome		DOID:2339	OMIM:123500	J:378157 , J:379813