Phenotypes associated with this allele

• Allele Symbol: Has2^tm1.1Chg
• Allele Name: targeted mutation 1.1, Chin Chiang
• Allele ID: MGI:5489753
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Has2^tm1.1Chg/Has2^tm1.2Chg Tg(Hoxb6-cre)#Mku/0	involves: 129 * Black Swiss * C57BL/6 * FVB/N * SJL	MGI:5489766
cn2	Has2^tm1.1Chg/Has2^tm1.1Chg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7380333

Genotype
MGI:5489766

cn1

• Allelic Composition: Has2^tm1.1Chg/Has2^tm1.2Chg; Tg(Hoxb6-cre)#Mku/0
• Genetic Background: involves: 129 * Black Swiss * C57BL/6 * FVB/N * SJL

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

skeleton

abnormal cartilage morphology ( J:194283 )

• severe cartilage reduction at P0

abnormal cartilage development ( J:194283 )

abnormal chondrocyte differentiation ( J:194283 )

• reduced chondrocyte differentiation

abnormal joint morphology ( J:194283 )

• joint positioning defects at P0 indicated by prominent changes in phalangeal cartilage nodule organization

• the interphalangeal joints are shifted perpendicularly at P0

• ectopic joints along the digit rays

limbs/digits/tail

abnormal limb mesenchyme morphology ( J:194283 )

• impaired phalangeal mesenchymal condensation

• however, mesenchyme proliferation is normal

abnormal digit morphology ( J:194283 )

• longitudinally oriented cavities that split proximal and medial phalanges

• digit defect in the forelimb is restricted to the posterior digits

embryo

abnormal limb mesenchyme morphology ( J:194283 )

• impaired phalangeal mesenchymal condensation

• however, mesenchyme proliferation is normal

Genotype
MGI:7380333

cn2

• Allelic Composition: Has2^tm1.1Chg/Has2^tm1.1Chg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:283393 )

• die within hours of birth due to respiratory and feeding difficulties

craniofacial

abnormal Meckel's cartilage morphology ( J:283393 )

• at E14.5, hyaluronic acid is only sporadically present

short Meckel's cartilage ( J:283393 )

• at E13.5

abnormal mandible morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

short mandible ( J:283393 )

• shorter but wider

abnormal maxilla morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

micrognathia ( J:283393 )

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

abnormal oral cavity morphology ( J:283393 )

• reduced vertical dimension of the oral-nasal cavity

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5

skeleton

abnormal Meckel's cartilage morphology ( J:283393 )

• at E14.5, hyaluronic acid is only sporadically present

short Meckel's cartilage ( J:283393 )

• at E13.5

abnormal mandible morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

short mandible ( J:283393 )

• shorter but wider

abnormal maxilla morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

micrognathia ( J:283393 )

digestive/alimentary system

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5

growth/size/body

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

abnormal oral cavity morphology ( J:283393 )

• reduced vertical dimension of the oral-nasal cavity

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5