All Phenotypes Hyal2<tm1.1Bfla> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hyal2^tm1.1Bfla/Hyal2^tm1.1Bfla	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3836772
hm2	Hyal2^tm1.1Bfla/Hyal2^tm1.1Bfla	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1	MGI:7451120
ht3	Hyal2^tm1.1Bfla/Hyal2⁺	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1	MGI:7451127

Allelic Composition	Hyal2^tm1.1Bfla/Hyal2^tm1.1Bfla
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hyal2^tm1.1Bfla mutation (0 available); any Hyal2 mutation (22 available)

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

mortality/aging

decreased survivor rate ( J:146040 )

• survival appears lower than in wild-type mice over the 18 month observation period

premature death ( J:146040 )

• survival appears lower than in wild-type mice over the 18 month observation period

postnatal lethality, incomplete penetrance ( J:146040 )

• fewer than expected mice survive beyond weaning (18% instead of the expected 25%)

hematopoietic system

anemia ( J:146040 )

• mild

decreased erythrocyte cell number ( J:146040 )

decreased hemoglobin content ( J:146040 )

polychromatophilia ( J:146040 )

thrombocytopenia ( J:146040 )

reticulocytosis ( J:146040 )

increased spleen iron level ( J:146040 )

skeleton

Wormian bones ( J:146040 )

• newborn and adult mice exhibit an extra diamond-shaped bony structure inserted between frontal and nasal bones, deforming the anterior part of the metopic suture and the frontonasal junction unlike in wild-type mice

• however, mice lack this extra structure at E17.5

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

abnormal cervical vertebrae morphology ( J:146040 )

• the first two cervical vertebrae are abnormally shaped with enlarged bodies and apophyses unlike in wild-type mice

• the C1 C2 junction is abnormal

fusion of atlas and odontoid process ( J:146040 )

• fused with C1 instead of C2

homeostasis/metabolism

increased spleen iron level ( J:146040 )

increased circulating hyaluronic acid level ( J:146040 )

• plasma hyaluronic acid concentrations are elevated 10-fold compared to in wild-type mice

increased circulating lactate dehydrogenase level ( J:146040 )

• plasma lactate dehydrogenase levels are elevated

increased kidney iron level ( J:146040 )

• mice exhibit increased iron deposits in the proximal tubules unlike in wild-type mice

increased liver iron level ( J:146040 )

liver/biliary system

increased liver iron level ( J:146040 )

renal/urinary system

increased kidney iron level ( J:146040 )

• mice exhibit increased iron deposits in the proximal tubules unlike in wild-type mice

immune system

increased spleen iron level ( J:146040 )

craniofacial

Wormian bones ( J:146040 )

• however, mice lack this extra structure at E17.5

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

short snout ( J:146040 )

• at 3 to 4 weeks

vision/eye

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

growth/size/body

short snout ( J:146040 )

• at 3 to 4 weeks

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:238703 )

• among 201 progeny of heterozygous intercrosses, 16 mice died at P1 and 16 mice died at P2-P9 while another 16 were alive at P21

behavior/neurological

absent gastric milk in neonates ( J:238703 )

• 4 pups found dead at P1 had no milk in their stomach

pup cannibalization ( J:238703 )

• most dead pups were cannibalized prior to genotype verification

growth/size/body

abnormal secondary palate development ( J:238703 )

• most E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• most E18.5-19.5 palates show abnormally formed rugae

oral cleft ( J:238703 )

submucous cleft palate ( J:238703 )

• 15 of 18 (83%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

head mesenchyme hyperplasia ( J:238703 )

• at P1, excess mesenchymal cells and their surrounding matrix are observed particularly in the anterior head

craniofacial

abnormal viscerocranium morphology ( J:238703 )

• micro-CT analysis of mice that died at P1 showed an underdeveloped and underossified viscerocranium

• several central palate bones are underdeveloped

absent ethmoid bone ( J:238703 )

• the ethmoid bone is nearly absent or severely reduced in size

small ethmoid bone ( J:238703 )

• the ethmoid bone is nearly absent or severely reduced in size

maxilla hypoplasia ( J:238703 )

abnormal vomer bone morphology ( J:238703 )

• the vomer bone does not fuse centrally or form a head that articulates with the maxilla

abnormal secondary palate development ( J:238703 )

• most E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• most E18.5-19.5 palates show abnormally formed rugae

oral cleft ( J:238703 )

submucous cleft palate ( J:238703 )

• 15 of 18 (83%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

cardiovascular system

cor triatriatum sinistrum ( J:238703 )

• 50% of mice exhibit cor triatriatum sinister, a congenital cardiac anomaly characterized by division of the left atrium

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:238703 )

• at 8-12 weeks of age, adult mice exhibit a significantly higher ABR threshold at all frequencies tested, indicating hearing loss

homeostasis/metabolism

increased hyaluronic acid level ( J:238703 )

• hyaluronan (HA) levels are markedly increased throughout the nasopharynx and in the palate

skeleton

abnormal viscerocranium morphology ( J:238703 )

• micro-CT analysis of mice that died at P1 showed an underdeveloped and underossified viscerocranium

• several central palate bones are underdeveloped

absent ethmoid bone ( J:238703 )

• the ethmoid bone is nearly absent or severely reduced in size

small ethmoid bone ( J:238703 )

• the ethmoid bone is nearly absent or severely reduced in size

maxilla hypoplasia ( J:238703 )

abnormal vomer bone morphology ( J:238703 )

• the vomer bone does not fuse centrally or form a head that articulates with the maxilla

abnormal intramembranous bone ossification ( J:238703 )

• defect in intramembranous ossification is more pronounced in the anterior midline and varies in severity among affected skulls

digestive/alimentary system

abnormal secondary palate development ( J:238703 )

• most E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• most E18.5-19.5 palates show abnormally formed rugae

submucous cleft palate ( J:238703 )

• 15 of 18 (83%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

embryo

head mesenchyme hyperplasia ( J:238703 )

• at P1, excess mesenchymal cells and their surrounding matrix are observed particularly in the anterior head

Allelic Composition	Hyal2^tm1.1Bfla/Hyal2⁺
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hyal2^tm1.1Bfla mutation (0 available); any Hyal2 mutation (22 available)

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

craniofacial

abnormal secondary palate development ( J:238703 )

• a small number of E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• a small number of E18.5-19.5 palates show abnormally formed rugae

submucous cleft palate ( J:238703 )

• 3 of 54 (5.6%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

digestive/alimentary system

abnormal secondary palate development ( J:238703 )

• a small number of E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• a small number of E18.5-19.5 palates show abnormally formed rugae

submucous cleft palate ( J:238703 )

• 3 of 54 (5.6%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

growth/size/body

abnormal secondary palate development ( J:238703 )

• a small number of E18.5-19.5 embryos exhibit partial clefts and/or shortening of the secondary palate as well as abnormally formed rugae

abnormal palatal rugae morphology ( J:238703 )

• a small number of E18.5-19.5 palates show abnormally formed rugae

submucous cleft palate ( J:238703 )

• 3 of 54 (5.6%) embryos exhibit submucosal cleft palate, not observed in wild-type controls

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