All Phenotypes Jam3<tm1Rha> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jam3^tm1Rha/Jam3^tm1Rha	B6.129P2-Jam3^tm1Rha	MGI:5502438
hm2	Jam3^tm1Rha/Jam3^tm1Rha	involves: 129P2/OlaHsd * C57BL/6	MGI:3055423
cn3	Jam3^tm1Rha/Jam3^tm1.1Chav Tg(Spo11-cre)D5Mpel/0	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:5297584
cx4	Jam3^tm1Rha/Jam3^tm1Rha Tg(Tek-Jam3)1Maal/0	B6.Cg-Jam3^tm1Rha Tg(Tek-Jam3)1Maal	MGI:5502441
cx5	Jam3^tm1Rha/Jam3^tm1Rha Tg(Tek-Jam3)1Maal/?	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA	MGI:3768529

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

Small body size, severe hydrocephalus, and brain alterations in Jam3^tm1Rha/Jam3^tm1Rha mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:191990 )

• only 50% of mutants survive to weaning at P21

• mice with severe hydrocephalus die within several days of birth

growth/size/body

postnatal growth retardation ( J:191990 )

craniofacial

abnormal cranium morphology ( J:191990 )

• deformed skull

• increase in hydrostatic pressure in the skull

enlarged cranium ( J:191990 )

• extremely enlarged skull

cardiovascular system

intracranial hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit multiple perivascular bleedings in the brain parenchyma

intraventricular hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit intraventricular hemorrhages

subarachnoid hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit subarachnoid hemorrhages

behavior/neurological

lethargy ( J:191990 )

• mice with severe hydrocephalus exhibit lethargy

tremors ( J:191990 )

• mice with severe hydrocephalus exhibit tremor

abnormal gait ( J:191990 )

• mice with severe hydrocephalus exhibit spastic gait

integument

disheveled coat ( J:191990 )

• mice with severe hydrocephalus exhibit an untended coat

nervous system

hydrocephaly ( J:191990 )

• 65% of mutants develop severe hydrocephalus

• 2/3 of mutants that survive past weaning develop hydrocephalus within the first 4-8 weeks after birth

• hydrocephalus gets more severe over time

obstructive hydrocephaly ( J:191990 )

• mutants developing hydrocephalus show impaired cerebral spinal fluid (CSF) drainage from the lateral to the 3rd ventricle, indicating obstruction

dilated lateral ventricle ( J:191990 )

abnormal hippocampus morphology ( J:191990 )

• hippocampus is dislocated due to an increase in hydrostatic pressure

abnormal cerebral cortex morphology ( J:191990 )

• severe disorganization of cortical layers in the brain

abnormal cerebral cortex pyramidal cell morphology ( J:191990 )

• lack of differentiated pyramidal cells

thin cerebral cortex ( J:191990 )

cerebellum atrophy ( J:191990 )

• atrophic cerebellum

gliosis ( J:191990 )

• reactive gliosis is seen in the anterior and posterior areas of the cortex and in the hippocampus, however they are not seen in the atrophic cerebellum

abnormal innervation ( J:191990 )

• axonal and dendritic processes or MBP+ fibers that run perpendicular to the surface of the brain are absent

abnormal nervous system physiology ( J:191990 )

• mutants developing hydrocephalus show impaired cerebral spinal fluid (CSF) drainage from the lateral to the 3rd ventricle

intracranial hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit multiple perivascular bleedings in the brain parenchyma

intraventricular hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit intraventricular hemorrhages

subarachnoid hemorrhage ( J:191990 )

• mice with hydrocephalus exhibit subarachnoid hemorrhages

skeleton

abnormal cranium morphology ( J:191990 )

• deformed skull

• increase in hydrostatic pressure in the skull

enlarged cranium ( J:191990 )

• extremely enlarged skull

Allelic Composition	Jam3^tm1Rha/Jam3^tm1Rha
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jam3^tm1Rha mutation (0 available); any Jam3 mutation (24 available)

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

mortality/aging

postnatal lethality ( J:92665 )

• 60% die during postnatal development

postnatal lethality, incomplete penetrance ( J:121841 )

• 75% of mice die within the first 5 weeks of life likely due to fatal multilobular pneumonia

• however, postnatal survival is increased to 60% when mice are housed in ventilated isolators

reproductive system

globozoospermia ( J:92665 )

• round spermatids lack acrosomal structures

• round spermatids lack morphological signs of polarization

abnormal seminiferous tubule morphology ( J:92665 )

• F-actin abnormally distributed

• actin bundles fail to form at Sertoli-spermatid junctions

small testis ( J:92665 )

• testis 50% smaller than wildtype

arrest of spermatogenesis ( J:92665 )

• spermatids do not differentiate to form flagella nor condensed nuclei

• epididymis lacks differentiated elongated spermatids

male infertility ( J:92665 , J:121841 )

(J:92665)

(J:121841)

immune system

increased granulocyte number ( J:121841 )

• basal levels of circulating granulocytes is increased compared to in wild-type mice 3 hours after inflammatory challenge

• however, granulocyte release from the bone marrow is normal

lung inflammation ( J:121841 )

• mice exhibit increased susceptibility to pneumonia compared to wild-type mice

increased susceptibility to bacterial infection ( J:121841 )

• unlike wild-type mice, esophagus lumen exhibit accumulation of coccobacilli likely due to a defect in esophageal contraction

digestive/alimentary system

enlarged esophagus ( J:121841 )

abnormal digestive system physiology ( J:121841 )

• unlike wild-type mice, esophagus lumen exhibit accumulation of coccobacilli likely due to a defect in esophageal contraction

respiratory system

abnormal respiratory system physiology ( J:121841 )

• bronchial contraction following stimulation with methcholine are absent

lung inflammation ( J:121841 )

• mice exhibit increased susceptibility to pneumonia compared to wild-type mice

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:92665 )

• F-actin abnormally distributed

• actin bundles fail to form at Sertoli-spermatid junctions

small testis ( J:92665 )

• testis 50% smaller than wildtype

hematopoietic system

increased granulocyte number ( J:121841 )

• basal levels of circulating granulocytes is increased compared to in wild-type mice 3 hours after inflammatory challenge

• however, granulocyte release from the bone marrow is normal

cellular

globozoospermia ( J:92665 )

• round spermatids lack acrosomal structures

• round spermatids lack morphological signs of polarization

growth/size/body

enlarged esophagus ( J:121841 )

Allelic Composition	Jam3^tm1Rha/Jam3^tm1.1Chav Tg(Spo11-cre)D5Mpel/0
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jam3^tm1.1Chav mutation (0 available); any Jam3 mutation (24 available)
Jam3^tm1Rha mutation (0 available); any Jam3 mutation (24 available)
Tg(Spo11-cre)D5Mpel mutation (1 available)

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

reproductive system

abnormal spermatid morphology ( J:166888 )

• rare elongating spermatids are detected in tubules in the testis

• degenerating spermatids and spermatocytes are observed in seminiferous tubules

abnormal manchette morphology ( J:166888 )

• cytoskeletal defects are observed in round spermatids; F-actin appears uniformly distributed (disorganized) within the cytoplasm, not localized to restricted zones of the cells (polarized)

decreased male germ cell number ( J:166888 )

• from 2 months of age onward, males show a strong decrease in sperm number from 90 to 95% relative to control males

increased male germ cell apoptosis ( J:166888 )

• widespread germ cell apoptosis is observed in testes

small testis ( J:166888 )

• reduction in testis size is observed in analyses at 7 months of age

arrest of spermatogenesis ( J:166888 )

• more than 80-90% of tubules are arrested at round stage of spermatid differentiation

endocrine/exocrine glands

small testis ( J:166888 )

• reduction in testis size is observed in analyses at 7 months of age

cellular

abnormal spermatid morphology ( J:166888 )

• rare elongating spermatids are detected in tubules in the testis

• degenerating spermatids and spermatocytes are observed in seminiferous tubules

abnormal manchette morphology ( J:166888 )

• cytoskeletal defects are observed in round spermatids; F-actin appears uniformly distributed (disorganized) within the cytoplasm, not localized to restricted zones of the cells (polarized)

decreased male germ cell number ( J:166888 )

• from 2 months of age onward, males show a strong decrease in sperm number from 90 to 95% relative to control males

increased male germ cell apoptosis ( J:166888 )

• widespread germ cell apoptosis is observed in testes

Allelic Composition	Jam3^tm1Rha/Jam3^tm1Rha Tg(Tek-Jam3)1Maal/0
Genetic Background	B6.Cg-Jam3^tm1Rha Tg(Tek-Jam3)1Maal

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jam3^tm1Rha mutation (0 available); any Jam3 mutation (24 available)
Tg(Tek-Jam3)1Maal mutation (0 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:191990 )

• percentage of mutants that survive to weaning is reduced (8.2% vs. the expected 12.5%)

nervous system

hydrocephaly ( J:191990 )

• about 65% of mutants develop hydrocephalus

Allelic Composition	Jam3^tm1Rha/Jam3^tm1Rha Tg(Tek-Jam3)1Maal/?
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jam3^tm1Rha mutation (0 available); any Jam3 mutation (24 available)
Tg(Tek-Jam3)1Maal mutation (0 available)

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

mortality/aging

mortality/aging ( J:121841 )

N	• unlike Jam3^tm1Rha homozygotes, mice do not exhibit any postnatal lethality due to housing conditions

reproductive system

male infertility ( J:121841 )

digestive/alimentary system

enlarged esophagus ( J:121841 )

immune system

immune system phenotype ( J:121841 )

N	• unlike Jam3^tm1Rha homozygotes, leukocyte homeostasis is normal

growth/size/body

enlarged esophagus ( J:121841 )

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